Variant report

Variant	nsv883274
Chromosome Location	chr5:179186397-179310330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7783)
CpG islands
(count:7336)
Chromatin interactive
region (count:356)
LncRNA
region (count:33)
Mature miRNA
region (count: 2)
miRNA target
sites (count:4)

(count:7783 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179252970-179253183	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179248732-179249164	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179285339-179285613	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:179264010-179264021	K562	blood:	n/a	n/a
8	ARID3A	chr5:179285861-179286163	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:179245825-179246612	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:179193473-179193721	K562	blood:	n/a	n/a
11	ARID3A	chr5:179246045-179246245	K562	blood:	n/a	n/a
12	ARID3A	chr5:179190032-179190452	K562	blood:	n/a	n/a
13	ARID3A	chr5:179285784-179286195	K562	blood:	n/a	n/a
14	ARID3A	chr5:179190117-179190487	HepG2	liver:	n/a	n/a
15	ARID3A	chr5:179251573-179251948	HepG2	liver:	n/a	n/a
16	ARID3A	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
17	ARID3A	chr5:179247261-179247994	HepG2	liver:	n/a	n/a
18	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
19	ARID3A	chr5:179247865-179248166	K562	blood:	n/a	n/a
20	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
21	ATF1	chr5:179245838-179246287	K562	blood:	n/a	n/a
22	ATF1	chr5:179186444-179186460	K562	blood:	n/a	n/a
23	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr5:179285769-179286228	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr5:179245799-179246272	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
27	ATF2	chr5:179247715-179248053	GM12878	blood:	n/a	n/a
28	ATF2	chr5:179245831-179246319	GM12878	blood:	n/a	n/a
29	ATF2	chr5:179285319-179285629	GM12878	blood:	n/a	n/a
30	ATF2	chr5:179247556-179248126	GM12878	blood:	n/a	n/a
31	ATF2	chr5:179248603-179248981	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr5:179245665-179246382	GM12878	blood:	n/a	n/a
34	ATF2	chr5:179285755-179286130	GM12878	blood:	n/a	n/a
35	ATF2	chr5:179245811-179246235	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr5:179285856-179286155	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF3	chr5:179245797-179246410	A549	lung:	n/a	chr5:179246322-179246331
39	ATF3	chr5:179266198-179266714	A549	lung:	n/a	n/a
40	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
41	ATF3	chr5:179247575-179248212	A549	lung:	n/a	chr5:179248165-179248179 chr5:179247812-179247821 chr5:179248169-179248180 chr5:179247852-179247861
42	ATF3	chr5:179245828-179246363	A549	lung:	n/a	chr5:179246322-179246331
43	ATF3	chr5:179190245-179190443	K562	blood:	n/a	n/a
44	ATF3	chr5:179247834-179248228	K562	blood:	n/a	chr5:179248165-179248179 chr5:179248169-179248180 chr5:179247852-179247861
45	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
46	ATF3	chr5:179248528-179249230	A549	lung:	n/a	n/a
47	ATF3	chr5:179245824-179246291	GM12878	blood:	n/a	n/a
48	ATF3	chr5:179245969-179246270	GM12878	blood:	n/a	n/a
49	ATF3	chr5:179285552-179286190	A549	lung:	n/a	chr5:179285689-179285698
50	ATF3	chr5:179285723-179286189	A549	lung:	n/a	n/a

(count:7336 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179229353-179229403	SK-N-MC	brain:	n/a
2	chr5:179285251-179285301	Jurkat	blood:	n/a
3	chr5:179233122-179233172	HL-60	blood:	n/a
4	chr5:179267771-179267821	AoSMC	blood vessel:	n/a
5	chr5:179220274-179220324	HCPEpiC	choroid plexus:	n/a
6	chr5:179285765-179285815	K562	blood:	n/a
7	chr5:179232165-179232215	HRCEpiC	kidney:	n/a
8	chr5:179276997-179277047	HRPEpiC	eye:	n/a
9	chr5:179219098-179219148	SK-N-MC	brain:	n/a
10	chr5:179306587-179306637	HL-60	blood:	n/a
11	chr5:179251299-179251349	IMR90	lung:	fetal
12	chr5:179230866-179230916	ovcar-3	ovarian:	n/a
13	chr5:179226172-179226222	SK-N-SH	brain:	n/a
14	chr5:179251000-179251050	Caco-2	colon:	n/a
15	chr5:179285936-179285986	IMR90	lung:	fetal
16	chr5:179285952-179286002	AG09309	skin:	n/a
17	chr5:179229353-179229403	SK-N-MC	brain:	n/a
18	chr5:179285251-179285301	Jurkat	blood:	n/a
19	chr5:179233122-179233172	HL-60	blood:	n/a
20	chr5:179267771-179267821	AoSMC	blood vessel:	n/a
21	chr5:179220274-179220324	HCPEpiC	choroid plexus:	n/a
22	chr5:179285765-179285815	K562	blood:	n/a
23	chr5:179232165-179232215	HRCEpiC	kidney:	n/a
24	chr5:179276997-179277047	HRPEpiC	eye:	n/a
25	chr5:179219098-179219148	SK-N-MC	brain:	n/a
26	chr5:179306587-179306637	HL-60	blood:	n/a
27	chr5:179251299-179251349	IMR90	lung:	fetal
28	chr5:179230866-179230916	ovcar-3	ovarian:	n/a
29	chr5:179226172-179226222	SK-N-SH	brain:	n/a
30	chr5:179251000-179251050	Caco-2	colon:	n/a
31	chr5:179285936-179285986	IMR90	lung:	fetal
32	chr5:179285952-179286002	AG09309	skin:	n/a
33	chr5:179232165-179232215	HEEpiC	esophagus:	n/a
34	chr5:179246106-179246156	ovcar-3	ovarian:	n/a
35	chr5:179308555-179308605	SK-N-SH	brain:	n/a
36	chr5:179225479-179225529	NH-A	brain:	n/a
37	chr5:179226186-179226236	NT2-D1	testis:	n/a
38	chr5:179250985-179251035	HepG2	liver:	n/a
39	chr5:179255653-179255703	HRPEpiC	eye:	n/a
40	chr5:179287084-179287134	HRE	kidney:	n/a
41	chr5:179239447-179239497	U87	brain:	n/a
42	chr5:179225515-179225565	T-47D	breast:	n/a
43	chr5:179233122-179233172	ProgFib	skin:	n/a
44	chr5:179230866-179230916	NB4	blood:	n/a
45	chr5:179285765-179285815	HIPEpiC	eye:	n/a
46	chr5:179226009-179226059	Jurkat	blood:	n/a
47	chr5:179233856-179233906	AG04450	lung:	fetal
48	chr5:179251299-179251349	ProgFib	skin:	n/a
49	chr5:179231109-179231159	K562	blood:	n/a
50	chr5:179244452-179244502	ProgFib	skin:	n/a

(count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr5:179277488..179279992-chr5:179284400..179287094,2	K562	blood:
2	chr5:179190216..179190823-chr5:179402021..179402891,3	MCF-7	breast:
3	chr5:179203387..179205916-chr5:179217553..179219501,2	MCF-7	breast:
4	chr5:179227703..179229883-chr5:179285735..179289127,3	K562	blood:
5	chr5:179253183..179254802-chr5:179263634..179265187,2	MCF-7	breast:
6	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
7	chr5:179295070..179296912-chr5:179329695..179331816,2	K562	blood:
8	chr2:208030506..208031117-chr5:179248052..179248703,2	Hela-S3	cervix:
9	chr5:179191657..179193161-chr5:179232412..179234419,2	MCF-7	breast:
10	chr5:179199669..179202266-chr5:179204889..179207881,3	K562	blood:
11	chr5:179207814..179210287-chr5:179215624..179217168,2	MCF-7	breast:
12	chr5:179189775..179190581-chr5:179231187..179232028,2	K562	blood:
13	chr5:179161523..179163573-chr5:179243732..179245347,2	MCF-7	breast:
14	chr5:179185963..179187544-chr5:179278623..179281522,2	K562	blood:
15	chr5:179308524..179311732-chr5:179312804..179315984,3	K562	blood:
16	chr5:179301651..179303198-chr5:179317402..179319642,2	MCF-7	breast:
17	chr5:179285802..179287373-chr5:179498927..179500668,2	MCF-7	breast:
18	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:
19	chr5:179210356..179212439-chr5:179227637..179229283,2	MCF-7	breast:
20	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
21	chr1:17231108..17232007-chr5:179247508..179248050,2	Hela-S3	cervix:
22	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
23	chr5:179183542..179185375-chr5:179186834..179189139,3	K562	blood:
24	chr5:179189945..179192800-chr5:179216394..179217969,2	K562	blood:
25	chr5:179189040..179191704-chr5:179221605..179224546,3	MCF-7	breast:
26	chr5:179232661..179233569-chr5:179247811..179248453,2	MCF-7	breast:
27	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
28	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
29	chr5:179267574..179269837-chr5:179280318..179284671,3	MCF-7	breast:
30	chr5:179189180..179191928-chr5:179192012..179195048,3	K562	blood:
31	chr5:179182800..179186679-chr5:179187040..179189568,4	K562	blood:
32	chr5:179201693..179205348-chr5:179210724..179213200,3	MCF-7	breast:
33	chr11:10830034..10830806-chr5:179247811..179248764,2	Hela-S3	cervix:
34	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
35	chr5:179285279..179287519-chr5:179287534..179289534,3	MCF-7	breast:
36	chr5:179294097..179296495-chr5:179297933..179301525,5	K562	blood:
37	chr5:179262940..179266304-chr5:179284329..179288957,4	K562	blood:
38	chr5:179284745..179287378-chr5:179287865..179289416,2	K562	blood:
39	chr5:179297440..179299112-chr5:179299118..179300893,2	MCF-7	breast:
40	chr5:179199705..179202070-chr5:179203658..179206224,2	MCF-7	breast:
41	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
42	chr5:179246544..179252042-chr5:179284250..179287282,6	K562	blood:
43	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
44	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
45	chr5:179194910..179198066-chr5:179199743..179203890,4	K562	blood:
46	chr5:179260065..179262290-chr5:179284341..179286629,2	MCF-7	breast:
47	chr5:179192680..179196164-chr5:179217971..179221244,3	MCF-7	breast:
48	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
49	chr5:179192926..179195030-chr5:179200613..179202484,2	MCF-7	breast:
50	chr5:179245762..179250347-chr5:179281858..179288397,17	MCF-7	breast:

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

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

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

(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	MAML1	hsa-miR-124-3p	chr5:179203410-179203416
3	SQSTM1	hsa-miR-7-5p	chr5:179264392-179264416
4	TBC1D9B	hsa-miR-92a-3p	chr5:179289723-179289744

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

Extended variants
information (count: 5985 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:5985 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4700839	chr5:179186397-179186398	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34952730	chr5:179186400-179186401	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs189032981	chr5:179186412-179186413	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs566690556	chr5:179186424-179186425	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs62406188	chr5:179186427-179186428	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs148676235	chr5:179186518-179186519	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs533856705	chr5:179186522-179186523	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs141252295	chr5:179186551-179186552	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs181288895	chr5:179186556-179186557	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs186405571	chr5:179186636-179186637	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs556132404	chr5:179186643-179186644	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs575799887	chr5:179186649-179186650	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs78309671	chr5:179186655-179186656	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs554828884	chr5:179186740-179186741	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs79845685	chr5:179186756-179186757	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs66686562	chr5:179186757-179186758	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77415449	chr5:179186764-179186765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs562975145	chr5:179186796-179186797	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs372981437	chr5:179186800-179186801	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs75055466	chr5:179186855-179186856	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs544234073	chr5:179186857-179186858	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs562924390	chr5:179186875-179186876	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs529913302	chr5:179186886-179186887	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs548499088	chr5:179186892-179186893	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs548154551	chr5:179186909-179186910	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs527528967	chr5:179186912-179186913	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs565907474	chr5:179186922-179186923	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs377573836	chr5:179186945-179186946	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs71613418	chr5:179186964-179186965	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs59745533	chr5:179186995-179186996	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74677716	chr5:179187005-179187006	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs537948166	chr5:179187068-179187069	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs561790382	chr5:179187095-179187096	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs567798856	chr5:179187112-179187113	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs549481694	chr5:179187130-179187131	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs144994930	chr5:179187135-179187136	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs568061901	chr5:179187153-179187154	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs190846465	chr5:179187177-179187178	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs139570792	chr5:179187217-179187218	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs370685569	chr5:179187240-179187241	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs529764746	chr5:179187336-179187337	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs573095115	chr5:179187339-179187340	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs534089072	chr5:179187452-179187453	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs558731819	chr5:179187490-179187491	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs576901069	chr5:179187498-179187499	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs9329088	chr5:179187594-179187595	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540384344	chr5:179187599-179187600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs182992278	chr5:179187627-179187628	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs185874470	chr5:179187671-179187672	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs529926099	chr5:179187697-179187698	Weak transcription Enhancers	Chromatin interactive region	3 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:7133 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179161800-179188800	Weak transcription	NHDF-Ad	bronchial
2	chr5:179162000-179186600	Weak transcription	Hela-S3	cervix
3	chr5:179162000-179190400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:179162600-179189000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:179164600-179186600	Weak transcription	NH-A	brain
6	chr5:179165800-179188800	Weak transcription	Brain Germinal Matrix	brain
7	chr5:179167000-179186600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:179167200-179188800	Weak transcription	NHEK	skin
9	chr5:179171800-179188800	Weak transcription	Colonic Mucosa	Colon
10	chr5:179174400-179186600	Weak transcription	Esophagus	oesophagus
11	chr5:179174400-179192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:179177000-179188800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:179177200-179186600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:179177400-179187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:179177800-179188800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:179178000-179186800	Weak transcription	Placenta	Placenta
17	chr5:179178000-179187000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:179178000-179188600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:179178000-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:179178000-179188800	Weak transcription	Osteobl	bone
21	chr5:179178400-179186400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:179178600-179186600	Weak transcription	Thymus	Thymus
23	chr5:179179000-179186800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:179179000-179189200	Weak transcription	Fetal Brain Female	brain
25	chr5:179181000-179186600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:179181600-179187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:179182000-179186600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:179182200-179188600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:179182200-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:179182400-179186400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:179182400-179186800	Weak transcription	Psoas Muscle	Psoas
32	chr5:179182400-179187200	Weak transcription	Lung	lung
33	chr5:179182400-179187400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:179182400-179188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:179182400-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:179182400-179188800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:179182400-179188800	Weak transcription	Gastric	stomach
38	chr5:179182400-179188800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:179182600-179186400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:179182600-179186400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:179182600-179186400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:179182600-179186600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:179182600-179186600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:179182600-179186600	Weak transcription	HUVEC	blood vessel
45	chr5:179182600-179186800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:179182600-179186800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:179182600-179187000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:179182600-179187000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:179182600-179187200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:179182600-179188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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