Variant report

Variant	nsv883276
Chromosome Location	chr5:179193598-179310330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7328)
CpG islands
(count:7209)
Chromatin interactive
region (count:316)
LncRNA
region (count:33)
Mature miRNA
region (count: 2)
miRNA target
sites (count:4)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179285784-179286195	K562	blood:	n/a	n/a
2	ARID3A	chr5:179247261-179247994	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179285861-179286163	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
6	ARID3A	chr5:179248732-179249164	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:179285339-179285613	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:179193473-179193721	K562	blood:	n/a	n/a
10	ARID3A	chr5:179252970-179253183	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:179247865-179248166	K562	blood:	n/a	n/a
12	ARID3A	chr5:179264010-179264021	K562	blood:	n/a	n/a
13	ARID3A	chr5:179246045-179246245	K562	blood:	n/a	n/a
14	ARID3A	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
15	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
16	ARID3A	chr5:179251573-179251948	HepG2	liver:	n/a	n/a
17	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
18	ARID3A	chr5:179245825-179246612	HepG2	liver:	n/a	n/a
19	ATF1	chr5:179245838-179246287	K562	blood:	n/a	n/a
20	ATF2	chr5:179285755-179286130	GM12878	blood:	n/a	n/a
21	ATF2	chr5:179248603-179248981	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr5:179285319-179285629	GM12878	blood:	n/a	n/a
23	ATF2	chr5:179245831-179246319	GM12878	blood:	n/a	n/a
24	ATF2	chr5:179245665-179246382	GM12878	blood:	n/a	n/a
25	ATF2	chr5:179247715-179248053	GM12878	blood:	n/a	n/a
26	ATF2	chr5:179247556-179248126	GM12878	blood:	n/a	n/a
27	ATF2	chr5:179245799-179246272	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr5:179285769-179286228	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr5:179285856-179286155	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
31	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr5:179245811-179246235	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF3	chr5:179245969-179246270	GM12878	blood:	n/a	n/a
36	ATF3	chr5:179245797-179246410	A549	lung:	n/a	chr5:179246322-179246331
37	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
38	ATF3	chr5:179247834-179248228	K562	blood:	n/a	chr5:179248165-179248179 chr5:179248169-179248180 chr5:179247852-179247861
39	ATF3	chr5:179247643-179248142	A549	lung:	n/a	chr5:179247812-179247821 chr5:179247852-179247861
40	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
41	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
42	ATF3	chr5:179245828-179246363	A549	lung:	n/a	chr5:179246322-179246331
43	ATF3	chr5:179247575-179248212	A549	lung:	n/a	chr5:179248165-179248179 chr5:179247812-179247821 chr5:179248169-179248180 chr5:179247852-179247861
44	ATF3	chr5:179248528-179249230	A549	lung:	n/a	n/a
45	ATF3	chr5:179285552-179286190	A549	lung:	n/a	chr5:179285689-179285698
46	ATF3	chr5:179266198-179266714	A549	lung:	n/a	n/a
47	ATF3	chr5:179245922-179246268	K562	blood:	n/a	n/a
48	ATF3	chr5:179245937-179246285	K562	blood:	n/a	n/a
49	ATF3	chr5:179245955-179246291	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF3	chr5:179263683-179264072	K562	blood:	n/a	n/a

(count:7209 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179286220-179286270	IMR90	lung:	fetal
2	chr5:179276852-179276902	GM06990	blood:	n/a
3	chr5:179227268-179227318	HEEpiC	esophagus:	n/a
4	chr5:179255653-179255703	HCF	heart:	n/a
5	chr5:179220274-179220324	HCM	heart:	n/a
6	chr5:179225039-179225089	GM19239	blood:	n/a
7	chr5:179275032-179275082	GM19239	blood:	n/a
8	chr5:179225504-179225554	AG10803	skin:	n/a
9	chr5:179276924-179276974	GM19239	blood:	n/a
10	chr5:179287084-179287134	HNPCEpiC	eye:	n/a
11	chr5:179225515-179225565	AoSMC	blood vessel:	n/a
12	chr5:179286220-179286270	IMR90	lung:	fetal
13	chr5:179276852-179276902	GM06990	blood:	n/a
14	chr5:179227268-179227318	HEEpiC	esophagus:	n/a
15	chr5:179255653-179255703	HCF	heart:	n/a
16	chr5:179220274-179220324	HCM	heart:	n/a
17	chr5:179225039-179225089	GM19239	blood:	n/a
18	chr5:179275032-179275082	GM19239	blood:	n/a
19	chr5:179225504-179225554	AG10803	skin:	n/a
20	chr5:179276924-179276974	GM19239	blood:	n/a
21	chr5:179287084-179287134	HNPCEpiC	eye:	n/a
22	chr5:179225515-179225565	AoSMC	blood vessel:	n/a
23	chr5:179220589-179220639	MCF-7	breast:	n/a
24	chr5:179267916-179267966	HEK293	kidney:	embryo
25	chr5:179251299-179251349	AG09309	skin:	n/a
26	chr5:179225977-179226027	PrEC	prostate:	n/a
27	chr5:179238472-179238522	HPAEpiC	pulmonary alveolar:	n/a
28	chr5:179262068-179262118	NT2-D1	testis:	n/a
29	chr5:179306345-179306395	PFSK-1	brain:	n/a
30	chr5:179234149-179234199	BE2_C	brain:	n/a
31	chr5:179286415-179286465	BE2_C	brain:	n/a
32	chr5:179234439-179234489	SAEC	small airway:	n/a
33	chr5:179248352-179248402	PANC-1	pancreas:	n/a
34	chr5:179244452-179244502	SK-N-MC	brain:	n/a
35	chr5:179220589-179220639	SK-N-SH	brain:	n/a
36	chr5:179267771-179267821	PrEC	prostate:	n/a
37	chr5:179239690-179239740	HEEpiC	esophagus:	n/a
38	chr5:179233856-179233906	NHBE	bronchial:	n/a
39	chr5:179224563-179224613	A549	lung:	n/a
40	chr5:179220820-179220870	SKMC	muscle:	n/a
41	chr5:179275032-179275082	SAEC	small airway:	n/a
42	chr5:179285251-179285301	HRCEpiC	kidney:	n/a
43	chr5:179229353-179229403	NT2-D1	testis:	n/a
44	chr5:179231109-179231159	GM06990	blood:	n/a
45	chr5:179285780-179285830	RPTEC	kidney:	n/a
46	chr5:179262068-179262118	Jurkat	blood:	n/a
47	chr5:179239690-179239740	HCPEpiC	choroid plexus:	n/a
48	chr5:179287084-179287134	A549	lung:	n/a
49	chr5:179220545-179220595	Caco-2	colon:	n/a
50	chr5:179248748-179248798	HEEpiC	esophagus:	n/a

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr5:179232749..179234437-chr5:179284019..179286391,2	K562	blood:
2	chr5:179254255..179256558-chr5:179287951..179290138,2	MCF-7	breast:
3	chr14:73957517..73958224-chr5:179247779..179248339,2	Hela-S3	cervix:
4	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
5	chr5:179194529..179197142-chr5:179270965..179273520,2	MCF-7	breast:
6	chr5:179271128..179272672-chr5:179273888..179276706,2	K562	blood:
7	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
8	chr5:179246365..179250489-chr5:179281961..179288216,8	MCF-7	breast:
9	chr5:179207814..179210287-chr5:179215624..179217168,2	MCF-7	breast:
10	chr5:179247658..179250130-chr5:179280236..179282871,2	K562	blood:
11	chr5:179124597..179127055-chr5:179246139..179249577,4	MCF-7	breast:
12	chr5:179192837..179195567-chr5:179212671..179216209,3	K562	blood:
13	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
14	chr5:179199705..179202070-chr5:179203658..179206224,2	MCF-7	breast:
15	chr5:179231717..179234135-chr5:179302526..179304877,2	MCF-7	breast:
16	chr5:179207715..179210288-chr5:179217795..179219761,2	MCF-7	breast:
17	chr5:179289788..179295879-chr5:179298486..179302200,7	MCF-7	breast:
18	chr5:179164536..179166178-chr5:179223167..179224801,2	MCF-7	breast:
19	chr5:179284572..179287253-chr5:179332885..179335031,4	MCF-7	breast:
20	chr5:179262940..179266304-chr5:179284329..179288957,4	K562	blood:
21	chr5:179284745..179287378-chr5:179287865..179289416,2	K562	blood:
22	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
23	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
24	chr5:179287101..179289302-chr5:179295168..179298855,3	K562	blood:
25	chr5:179192926..179195030-chr5:179200613..179202484,2	MCF-7	breast:
26	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
27	chr5:179124533..179126912-chr5:179247842..179250922,3	K562	blood:
28	chr5:179192355..179194197-chr5:179212856..179215229,2	MCF-7	breast:
29	chr2:196521594..196522509-chr5:179247468..179248353,2	Hela-S3	cervix:
30	chr5:179201375..179203959-chr5:179207512..179210271,2	MCF-7	breast:
31	chr5:179207715..179210288-chr5:179217795..179219761,2	MCF-7	breast:
32	chr5:179125392..179128992-chr5:179244423..179246560,4	K562	blood:
33	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
34	chr19:2948482..2950039-chr5:179257194..179258714,2	K562	blood:
35	chr5:179196549..179199381-chr5:179205850..179207537,2	MCF-7	breast:
36	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:
37	chr5:179284411..179288482-chr5:179291303..179294641,8	MCF-7	breast:
38	chr5:179252799..179257821-chr5:179257862..179261026,6	MCF-7	breast:
39	chr5:179123896..179127851-chr5:179243560..179246560,5	K562	blood:
40	chr5:179158923..179161339-chr5:179247308..179249406,2	K562	blood:
41	chr5:179208245..179209901-chr5:179214926..179216675,2	MCF-7	breast:
42	chr5:179192926..179195030-chr5:179200613..179202484,2	MCF-7	breast:
43	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
44	chr5:179208668..179210975-chr5:179221347..179223375,2	MCF-7	breast:
45	chr5:179230087..179232097-chr5:179290171..179292438,2	K562	blood:
46	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
47	chr5:179190740..179195492-chr5:179198923..179204539,8	MCF-7	breast:
48	chr1:17231108..17232007-chr5:179247508..179248050,2	Hela-S3	cervix:
49	chr5:179284415..179287305-chr5:179333085..179336223,5	MCF-7	breast:
50	chr5:179205387..179207447-chr5:179218747..179220491,2	K562	blood:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D9B-1	chr5:179264274-179264879	NONHSAT105640
2	lnc-TBC1D9B-1	chr5:179268458-179269064	NONHSAT105644
3	lnc-LTC4S-1	chr5:179218765-179220536	NONHSAT105621
4	lnc-LTC4S-2	chr5:179239407-179240024	NONHSAT105629
5	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629
6	lnc-TBC1D9B-1	chr5:179271152-179271220	NONHSAT105644
7	lnc-C5orf45-2	chr5:179299416-179299990	NONHSAT105653
8	lnc-TBC1D9B-1	chr5:179288961-179289173	NONHSAT105649
9	lnc-LTC4S-1	chr5:179215129-179215154	NONHSAT105621
10	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105629
11	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
12	lnc-TBC1D9B-1	chr5:179271152-179271325	NONHSAT105643
13	lnc-TBC1D9B-1	chr5:179287514-179287707	NONHSAT105649
14	lnc-TBC1D9B-1	chr5:179271152-179271221	NONHSAT105640
15	lnc-C5orf45-4	chr5:179231941-179232385	NONHSAT105628
16	lnc-LTC4S-2	chr5:179238615-179238682	NONHSAT105631
17	lnc-C5orf45-4	chr5:179229952-179230030	NONHSAT105628
18	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105630
19	lnc-TBC1D9B-1	chr5:179267590-179267959	NONHSAT105643
20	lnc-TBC1D9B-1	chr5:179264143-179264204	NONHSAT105639
21	lnc-C5orf45-1	chr5:179297255-179297408	NONHSAT105652
22	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627
23	lnc-LTC4S-2	chr5:179238988-179240641	NONHSAT105631
24	lnc-TBC1D9B-1	chr5:179269000-179269064	NONHSAT105640
25	lnc-C5orf45-1	chr5:179295058-179296834	NONHSAT105652
26	lnc-TBC1D9B-1	chr5:179268907-179269064	NONHSAT105643
27	lnc-LTC4S-2	chr5:179239407-179240598	NONHSAT105630
28	lnc-TBC1D9B-1	chr5:179268269-179268370	NONHSAT105644
29	lnc-TBC1D9B-1	chr5:179264760-179265255	NONHSAT105639
30	lnc-TBC1D9B-1	chr5:179280283-179280437	NONHSAT105649
31	lnc-SQSTM1-1	chr5:179272832-179273152	NONHSAT105645
32	lnc-C5orf45-2	chr5:179300119-179300135	NONHSAT105653
33	lnc-C5orf45-4	chr5:179229313-179230030	NONHSAT105627

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1229-3p	chr5:179225278-179225300	MIMAT0005584
hsa-miR-1229-5p	chr5:179225323-179225346	MIMAT0022942

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MAML1	hsa-miR-124-3p	chr5:179203396-179203417
2	SQSTM1	hsa-miR-7-5p	chr5:179264392-179264416
3	MAML1	hsa-miR-124-3p	chr5:179203410-179203416
4	TBC1D9B	hsa-miR-92a-3p	chr5:179289723-179289744

Variant related genes	Relation type
LTC4S	TF binding region
C5orf45	TF binding region
TBC1D9B	TF binding region
SQSTM1	TF binding region
ENSG00000245317	TF binding region
ENSG00000252202	TF binding region
RN7SKP150	TF binding region
MAML1	TF binding region
MGAT4B	TF binding region
MIR1229	TF binding region
LTC4S	CpG island
C5orf45	CpG island
TBC1D9B	CpG island
SQSTM1	CpG island
ENSG00000245317	CpG island
ENSG00000252202	CpG island
RN7SKP150	CpG island
MAML1	CpG island
MGAT4B	CpG island
MIR1229	CpG island
ENSG00000167965	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000100316	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000213316	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000176542	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000078304	chromatin interactions
ENSG00000222448	chromatin interactions
ENSG00000255242	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000196950	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000252958	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000146090	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000252202	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000111647	chromatin interactions
ENSG00000118263	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000257696	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000221394	chromatin interactions
ENSG00000259088	chromatin interactions
ENSG00000164053	chromatin interactions
TUBA1B	Mature miRNA region
EIF4G2	Mature miRNA region
RPL7A	Mature miRNA region
CDIPT	Mature miRNA region
KMT2D	Mature miRNA region
TRRAP	Mature miRNA region
CEP55	Mature miRNA region
PHRF1	Mature miRNA region
DAG1	Mature miRNA region
BRD2	Mature miRNA region
CTDNEP1	Mature miRNA region
SAFB	Mature miRNA region
MPP2	Mature miRNA region
RPL3	Mature miRNA region
ZDHHC7	Mature miRNA region
EPB41L2	Mature miRNA region
MAPKAPK2	Mature miRNA region
ARL6IP1	Mature miRNA region
CSDE1	Mature miRNA region
MED19	Mature miRNA region
TIA1	Mature miRNA region
TUBG1	Mature miRNA region
FEN1	Mature miRNA region
IGF2BP1	Mature miRNA region
MAD2L2	Mature miRNA region
PPP6R1	Mature miRNA region
CLSTN3	Mature miRNA region
HNRNPA1	Mature miRNA region
SLC16A13	Mature miRNA region
ZMYM2	Mature miRNA region
BAP1	Mature miRNA region
OPA3	Mature miRNA region
ZNF264	Mature miRNA region
PTPRF	Mature miRNA region
AHCYL1	Mature miRNA region
SUPT5H	Mature miRNA region
ERC1	Mature miRNA region
TSC22D3	Mature miRNA region
ADPRHL2	Mature miRNA region
FOXK1	Mature miRNA region
SRP72	Mature miRNA region
POLR2D	Mature miRNA region
ALS2	Mature miRNA region
SCD	Mature miRNA region
PRKRIP1	Mature miRNA region
C9orf114	Mature miRNA region
PHGDH	Mature miRNA region
KIF24	Mature miRNA region
HNRNPUL1	Mature miRNA region
INTS10	Mature miRNA region
PHC1	Mature miRNA region
HNRNPA3	Mature miRNA region
KRT28	Mature miRNA region
KDM5C	Mature miRNA region
ACOT7	Mature miRNA region
COIL	Mature miRNA region
FOXP1	Mature miRNA region
NME2	Mature miRNA region
HYPK	Mature miRNA region
PTBP3	Mature miRNA region
PSMC5	Mature miRNA region
REXO2	Mature miRNA region
ACLY	Mature miRNA region
DCAF7	Mature miRNA region
BET1L	Mature miRNA region
HIST4H4	Mature miRNA region
TUSC3	Mature miRNA region
EEF2	Mature miRNA region
CTNNBL1	Mature miRNA region
CHCHD2	Mature miRNA region
PAK4	Mature miRNA region
CRISP3	Mature miRNA region
CTCF	Mature miRNA region
GAPDH	Mature miRNA region
NUP210	Mature miRNA region
VWA8	Mature miRNA region
STAT5B	Mature miRNA region
SRCAP	Mature miRNA region
PITPNB	Mature miRNA region
NXPE3	Mature miRNA region
GPI	Mature miRNA region
SIK2	Mature miRNA region
AIF1L	Mature miRNA region
CEP350	Mature miRNA region
HNRNPD	Mature miRNA region
KCTD15	Mature miRNA region
SNX12	Mature miRNA region
MDK	Mature miRNA region
PPP4C	Mature miRNA region
PHF8	Mature miRNA region
ZNF687	Mature miRNA region
RPGRIP1L	Mature miRNA region
RNF40	Mature miRNA region
INO80D	Mature miRNA region
PRDX4	Mature miRNA region
CTNND1	Mature miRNA region
AP2M1	Mature miRNA region
EML1	Mature miRNA region
LRIT1	Mature miRNA region
NAA50	Mature miRNA region
LDOC1L	Mature miRNA region
CPNE1	Mature miRNA region
HADHB	Mature miRNA region
ITGA5	Mature miRNA region
GTF2I	Mature miRNA region
CDKN1A	Mature miRNA region
SCAMP5	Mature miRNA region
SORBS3	Mature miRNA region
SFPQ	Mature miRNA region
C19orf10	Mature miRNA region
CDC42EP4	Mature miRNA region
CPT1B	Mature miRNA region
FMNL2	Mature miRNA region
ABCC5	Mature miRNA region
SAE1	Mature miRNA region
NEU3	Mature miRNA region
OTUD7B	Mature miRNA region
NAPEPLD	Mature miRNA region
LRBA	Mature miRNA region
DDX23	Mature miRNA region
C2orf44	Mature miRNA region
CEP152	Mature miRNA region
YWHAZ	Mature miRNA region
DCTD	Mature miRNA region
ATP5A1	Mature miRNA region
TARDBP	Mature miRNA region
RUVBL2	Mature miRNA region
PBRM1	Mature miRNA region
HIST1H3G	Mature miRNA region
NF2	Mature miRNA region
KPNB1	Mature miRNA region
TNRC6B	Mature miRNA region
RPS15	Mature miRNA region
SLC39A7	Mature miRNA region

Extended variants
information (count: 5674 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:5674 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3797776	chr5:179193598-179193599	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372818292	chr5:179193601-179193602	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs376292928	chr5:179193618-179193619	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs199653012	chr5:179193629-179193630	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs562765134	chr5:179193643-179193644	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs370675291	chr5:179193659-179193660	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs141579564	chr5:179193667-179193668	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs61753465	chr5:179193668-179193669	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs373039830	chr5:179193672-179193673	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs139205961	chr5:179193711-179193712	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs142522300	chr5:179193720-179193721	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs377518731	chr5:179193765-179193766	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs146965341	chr5:179193775-179193776	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs185482466	chr5:179193800-179193801	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs527367242	chr5:179193812-179193813	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs552276370	chr5:179193825-179193826	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs3797775	chr5:179193826-179193827	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531378405	chr5:179193827-179193828	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs78366689	chr5:179193834-179193835	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs568478927	chr5:179193861-179193862	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs569159286	chr5:179193900-179193901	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs189957044	chr5:179193932-179193933	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs554707259	chr5:179193960-179193961	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs3797774	chr5:179193970-179193971	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs534034161	chr5:179194005-179194006	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs559051432	chr5:179194008-179194009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs149034836	chr5:179194012-179194013	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs143001859	chr5:179194013-179194014	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs556305331	chr5:179194069-179194070	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs10707656	chr5:179194097-179194098	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs574751774	chr5:179194119-179194120	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs148278531	chr5:179194181-179194182	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs560366144	chr5:179194317-179194318	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs527528886	chr5:179194390-179194391	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs545571449	chr5:179194426-179194427	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs547850346	chr5:179194468-179194469	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs531307412	chr5:179194506-179194507	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs531427557	chr5:179194507-179194508	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs76007005	chr5:179194538-179194539	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs368599524	chr5:179194542-179194543	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs181412908	chr5:179194588-179194589	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs530312247	chr5:179194648-179194649	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs548520006	chr5:179194665-179194666	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs564533319	chr5:179194689-179194690	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs566716715	chr5:179194716-179194717	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs183819163	chr5:179194777-179194778	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs558890977	chr5:179194812-179194813	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs188230513	chr5:179194813-179194814	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs537970818	chr5:179194939-179194940	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs533470724	chr5:179194940-179194941	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6533 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179188600-179193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:179188800-179193600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:179189800-179194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:179190600-179194800	Enhancers	Right Atrium	heart
5	chr5:179190800-179207600	Strong transcription	Dnd41	blood
6	chr5:179191000-179193800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:179191000-179203000	Weak transcription	Psoas Muscle	Psoas
8	chr5:179191200-179195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:179191200-179196000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:179191200-179210400	Strong transcription	Thymus	Thymus
11	chr5:179192000-179193600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:179192000-179193600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:179192000-179193600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:179192000-179193800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:179192000-179193800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:179192000-179194000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:179192000-179194000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:179192000-179194400	Genic enhancers	Stomach Smooth Muscle	stomach
19	chr5:179192000-179200000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:179192000-179202000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:179192000-179207800	Strong transcription	Fetal Thymus	thymus
22	chr5:179192200-179193600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:179192200-179193600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:179192200-179193600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:179192200-179193600	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr5:179192200-179193800	Genic enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:179192200-179194000	Genic enhancers	Brain Substantia Nigra	brain
28	chr5:179192200-179194000	Strong transcription	Colonic Mucosa	Colon
29	chr5:179192200-179194400	Genic enhancers	A549	lung
30	chr5:179192200-179194600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:179192200-179194800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:179192200-179194800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:179192200-179194800	Strong transcription	Fetal Kidney	kidney
34	chr5:179192200-179195600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:179192200-179200000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:179192200-179206200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:179192200-179206200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:179192200-179206400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:179192200-179206400	Strong transcription	HepG2	liver
40	chr5:179192200-179207600	Strong transcription	Fetal Lung	lung
41	chr5:179192200-179207800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:179192200-179208000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:179192200-179210400	Strong transcription	Brain Germinal Matrix	brain
44	chr5:179192400-179193600	Genic enhancers	Placenta	Placenta
45	chr5:179192400-179193800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:179192400-179193800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:179192400-179193800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr5:179192400-179193800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:179192400-179193800	Genic enhancers	Brain Cingulate Gyrus	brain
50	chr5:179192400-179193800	Genic enhancers	Brain Hippocampus Middle	brain

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