Variant report

Variant	nsv469579
Chromosome Location	chr5:179184831-179360191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8823)
CpG islands
(count:8430)
Chromatin interactive
region (count:454)
LncRNA
region (count:36)
Mature miRNA
region (count: 2)
miRNA target
sites (count:4)

(count:8823 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

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	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179246045-179246245	K562	blood:	n/a	n/a
4	ARID3A	chr5:179193473-179193721	K562	blood:	n/a	n/a
5	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179285861-179286163	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:179247261-179247994	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
9	ARID3A	chr5:179247865-179248166	K562	blood:	n/a	n/a
10	ARID3A	chr5:179251573-179251948	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:179248732-179249164	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
13	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
14	ARID3A	chr5:179245825-179246612	HepG2	liver:	n/a	n/a
15	ARID3A	chr5:179285339-179285613	HepG2	liver:	n/a	n/a
16	ARID3A	chr5:179190117-179190487	HepG2	liver:	n/a	n/a
17	ARID3A	chr5:179190032-179190452	K562	blood:	n/a	n/a
18	ARID3A	chr5:179264010-179264021	K562	blood:	n/a	n/a
19	ARID3A	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
20	ARID3A	chr5:179285784-179286195	K562	blood:	n/a	n/a
21	ATF1	chr5:179350505-179350738	K562	blood:	n/a	n/a
22	ATF1	chr5:179341125-179341473	K562	blood:	n/a	n/a
23	ATF1	chr5:179186444-179186460	K562	blood:	n/a	n/a
24	ATF1	chr5:179245838-179246287	K562	blood:	n/a	n/a
25	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr5:179245831-179246319	GM12878	blood:	n/a	n/a
28	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
29	ATF2	chr5:179285769-179286228	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr5:179285856-179286155	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr5:179245665-179246382	GM12878	blood:	n/a	n/a
33	ATF2	chr5:179247715-179248053	GM12878	blood:	n/a	n/a
34	ATF2	chr5:179245799-179246272	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr5:179285319-179285629	GM12878	blood:	n/a	n/a
36	ATF2	chr5:179247556-179248126	GM12878	blood:	n/a	n/a
37	ATF2	chr5:179285755-179286130	GM12878	blood:	n/a	n/a
38	ATF2	chr5:179248603-179248981	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr5:179245811-179246235	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF3	chr5:179248528-179249230	A549	lung:	n/a	n/a
41	ATF3	chr5:179263683-179264072	K562	blood:	n/a	n/a
42	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
43	ATF3	chr5:179245824-179246291	GM12878	blood:	n/a	n/a
44	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
45	ATF3	chr5:179245934-179246278	HepG2	liver:	n/a	n/a
46	ATF3	chr5:179245797-179246410	A549	lung:	n/a	chr5:179246322-179246331
47	ATF3	chr5:179245922-179246268	K562	blood:	n/a	n/a
48	ATF3	chr5:179245828-179246363	A549	lung:	n/a	chr5:179246322-179246331
49	ATF3	chr5:179285723-179286189	A549	lung:	n/a	n/a
50	ATF3	chr5:179247643-179248142	A549	lung:	n/a	chr5:179247812-179247821 chr5:179247852-179247861

(count:8430 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179335704-179335754	Hepatocyte	liver:	n/a
2	chr5:179220820-179220870	U87	brain:	n/a
3	chr5:179297440-179297490	PrEC	prostate:	n/a
4	chr5:179234187-179234237	SAEC	small airway:	n/a
5	chr5:179222639-179222689	HCT-116	colon:	n/a
6	chr5:179224836-179224886	BE2_C	brain:	n/a
7	chr5:179224563-179224613	PFSK-1	brain:	n/a
8	chr5:179285854-179285904	NHBE	bronchial:	n/a
9	chr5:179247983-179248033	Hepatocyte	liver:	n/a
10	chr5:179231109-179231159	HEEpiC	esophagus:	n/a
11	chr5:179223116-179223166	GM19239	blood:	n/a
12	chr5:179238472-179238522	HEEpiC	esophagus:	n/a
13	chr5:179335704-179335754	Hepatocyte	liver:	n/a
14	chr5:179220820-179220870	U87	brain:	n/a
15	chr5:179297440-179297490	PrEC	prostate:	n/a
16	chr5:179234187-179234237	SAEC	small airway:	n/a
17	chr5:179222639-179222689	HCT-116	colon:	n/a
18	chr5:179224836-179224886	BE2_C	brain:	n/a
19	chr5:179224563-179224613	PFSK-1	brain:	n/a
20	chr5:179285854-179285904	NHBE	bronchial:	n/a
21	chr5:179247983-179248033	Hepatocyte	liver:	n/a
22	chr5:179231109-179231159	HEEpiC	esophagus:	n/a
23	chr5:179223116-179223166	GM19239	blood:	n/a
24	chr5:179238472-179238522	HEEpiC	esophagus:	n/a
25	chr5:179225537-179225587	Hela-S3	cervix:	n/a
26	chr5:179308555-179308605	AG04449	skin:	fetal
27	chr5:179239447-179239497	Caco-2	colon:	n/a
28	chr5:179227268-179227318	HNPCEpiC	eye:	n/a
29	chr5:179306210-179306260	NT2-D1	testis:	n/a
30	chr5:179232533-179232583	RPTEC	kidney:	n/a
31	chr5:179230002-179230052	HMEC	breast:	n/a
32	chr5:179289576-179289626	HNPCEpiC	eye:	n/a
33	chr5:179232165-179232215	HMEC	breast:	n/a
34	chr5:179335223-179335273	HL-60	blood:	n/a
35	chr5:179275718-179275768	MCF-7	breast:	n/a
36	chr5:179305602-179305652	HIPEpiC	eye:	n/a
37	chr5:179281560-179281610	HAEpiC	amniotic membrane:	n/a
38	chr5:179247688-179247738	GM12891	blood:	n/a
39	chr5:179221090-179221140	GM12878	blood:	n/a
40	chr5:179226172-179226222	U87	brain:	n/a
41	chr5:179333958-179334008	HepG2	liver:	n/a
42	chr5:179285780-179285830	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:179285854-179285904	T-47D	breast:	n/a
44	chr5:179233589-179233639	PrEC	prostate:	n/a
45	chr5:179226009-179226059	HEK293	kidney:	embryo
46	chr5:179251299-179251349	PFSK-1	brain:	n/a
47	chr5:179226753-179226803	Hepatocyte	liver:	n/a
48	chr5:179229353-179229403	HUVEC	blood vessel:	n/a
49	chr5:179235209-179235259	GM06990	blood:	n/a
50	chr5:179234187-179234237	U87	brain:	n/a

(count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Distal block	Cell Line	Cell type
1	chr5:179267574..179269837-chr5:179280318..179284671,3	MCF-7	breast:
2	chr5:179189824..179191528-chr5:179247114..179249290,2	MCF-7	breast:
3	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
4	chr5:179290040..179292104-chr5:179300801..179303635,2	K562	blood:
5	chr5:179232809..179235072-chr5:179322823..179324709,2	MCF-7	breast:
6	chr5:179247476..179249200-chr5:179334152..179336100,2	K562	blood:
7	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
8	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
9	chr5:179228970..179231502-chr5:179276172..179278068,2	MCF-7	breast:
10	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
11	chr5:179126146..179127712-chr5:179333460..179335651,2	MCF-7	breast:
12	chr5:179334131..179337404-chr5:179337749..179339982,3	K562	blood:
13	chr5:179192926..179195030-chr5:179200613..179202484,2	MCF-7	breast:
14	chr5:179201693..179205348-chr5:179210724..179213200,3	MCF-7	breast:
15	chr5:179246564..179250154-chr5:179266751..179272341,6	MCF-7	breast:
16	chr5:179285301..179288103-chr5:179290972..179294711,5	MCF-7	breast:
17	chr5:179246564..179250154-chr5:179266751..179272341,6	MCF-7	breast:
18	chr5:179321165..179323025-chr5:179323044..179324788,2	MCF-7	breast:
19	chr5:179262940..179266304-chr5:179284329..179288957,4	K562	blood:
20	chr5:179244299..179249031-chr5:179283718..179288072,6	K562	blood:
21	chr5:179249875..179252190-chr5:179321667..179324524,2	K562	blood:
22	chr5:179290999..179292757-chr5:179334523..179336715,2	K562	blood:
23	chr5:179247432..179249386-chr5:179323355..179325915,2	K562	blood:
24	chr5:179211965..179215539-chr5:179247804..179250502,3	K562	blood:
25	chr5:179196549..179199381-chr5:179205850..179207537,2	MCF-7	breast:
26	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
27	chr5:179288562..179291092-chr5:179291407..179293097,2	MCF-7	breast:
28	chr5:179259349..179261081-chr5:179327566..179330234,2	K562	blood:
29	chr5:179244299..179246277-chr5:179283319..179285218,2	K562	blood:
30	chr5:179127269..179130217-chr5:179212553..179215180,2	K562	blood:
31	chr5:179252799..179257821-chr5:179257862..179261026,6	MCF-7	breast:
32	chr2:191746477..191747283-chr5:179333954..179334548,2	Hela-S3	cervix:
33	chr5:179183542..179185375-chr5:179186834..179189139,3	K562	blood:
34	chr5:179285301..179288103-chr5:179290972..179294711,5	MCF-7	breast:
35	chr5:179047327..179049016-chr5:179246235..179248894,2	MCF-7	breast:
36	chr5:179207814..179210287-chr5:179215624..179217168,2	MCF-7	breast:
37	chr5:179317667..179320098-chr5:179321526..179324368,3	MCF-7	breast:
38	chr5:179263833..179265352-chr5:179332066..179334694,2	K562	blood:
39	chr5:179319773..179322794-chr5:179334864..179337112,3	MCF-7	breast:
40	chr5:179207473..179209466-chr5:179245089..179247994,2	MCF-7	breast:
41	chr5:179285802..179287373-chr5:179498927..179500668,2	MCF-7	breast:
42	chr5:179285279..179287519-chr5:179287534..179289534,3	MCF-7	breast:
43	chr5:179208245..179209901-chr5:179214926..179216675,2	MCF-7	breast:
44	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
45	chr5:179288672..179291374-chr5:179292378..179294390,2	MCF-7	breast:
46	chr5:179205290..179207447-chr5:179218747..179221079,3	K562	blood:
47	chr5:179242622..179245445-chr5:180672767..180675405,2	MCF-7	breast:
48	chr5:179199669..179202266-chr5:179204889..179207881,3	K562	blood:
49	chr5:179232956..179235259-chr5:179316504..179319175,2	MCF-7	breast:
50	chr5:179332164..179334090-chr5:179510604..179512176,2	MCF-7	breast:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D9B-1	chr5:179269000-179269064	NONHSAT105640
2	lnc-LTC4S-2	chr5:179239407-179240598	NONHSAT105630
3	lnc-TBC1D9B-1	chr5:179271152-179271220	NONHSAT105644
4	lnc-TBC1D9B-1	chr5:179280283-179280437	NONHSAT105649
5	lnc-TBC1D9B-1	chr5:179287514-179287707	NONHSAT105649
6	lnc-LTC4S-2	chr5:179238615-179238682	NONHSAT105631
7	lnc-TBC1D9B-1	chr5:179268907-179269064	NONHSAT105643
8	lnc-TBC1D9B-1	chr5:179271152-179271325	NONHSAT105643
9	lnc-LTC4S-2	chr5:179238988-179240641	NONHSAT105631
10	lnc-TBC1D9B-1	chr5:179271152-179271221	NONHSAT105640
11	lnc-TBC1D9B-1	chr5:179288961-179289173	NONHSAT105649
12	lnc-TBC1D9B-1	chr5:179264760-179265255	NONHSAT105639
13	lnc-SQSTM1-1	chr5:179272832-179273152	NONHSAT105645
14	lnc-TBC1D9B-1	chr5:179267590-179267959	NONHSAT105643
15	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105629
16	lnc-C5orf45-2	chr5:179299416-179299990	NONHSAT105653
17	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629
18	lnc-TBC1D9B-1	chr5:179264274-179264879	NONHSAT105640
19	lnc-RNF130-1	chr5:179345911-179347229	NONHSAT105657
20	lnc-LTC4S-1	chr5:179215129-179215154	NONHSAT105621
21	lnc-C5orf45-1	chr5:179297255-179297408	NONHSAT105652
22	lnc-LTC4S-1	chr5:179218765-179220536	NONHSAT105621
23	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627
24	lnc-C5orf45-2	chr5:179300119-179300135	NONHSAT105653
25	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105630
26	lnc-C5orf45-4	chr5:179229313-179230030	NONHSAT105627
27	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
28	lnc-RNF130-2	chr5:179345233-179345714	NONHSAT105656
29	lnc-TBC1D9B-1	chr5:179268458-179269064	NONHSAT105644
30	lnc-C5orf45-1	chr5:179295058-179296834	NONHSAT105652
31	lnc-RNF130-2	chr5:179341389-179342210	NONHSAT105656
32	lnc-TBC1D9B-1	chr5:179264143-179264204	NONHSAT105639
33	lnc-LTC4S-2	chr5:179239407-179240024	NONHSAT105629
34	lnc-C5orf45-4	chr5:179229952-179230030	NONHSAT105628
35	lnc-TBC1D9B-1	chr5:179268269-179268370	NONHSAT105644
36	lnc-C5orf45-4	chr5:179231941-179232385	NONHSAT105628

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	SQSTM1	hsa-miR-7-5p	chr5:179264392-179264416
2	MAML1	hsa-miR-124-3p	chr5:179203396-179203417
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
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
ENSG00000137409	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000255242	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000118263	chromatin interactions
ENSG00000235852	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000167965	chromatin interactions
ENSG00000221394	chromatin interactions
ENSG00000078304	chromatin interactions
ENSG00000252958	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000222448	chromatin interactions
ENSG00000176542	chromatin interactions
ENSG00000111647	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000242979	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000257696	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000259088	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000196950	chromatin interactions
ENSG00000252202	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000213316	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000100316	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000146090	chromatin interactions
ZNF264	Mature miRNA region
SNX12	Mature miRNA region
DAG1	Mature miRNA region
DCAF7	Mature miRNA region
TUSC3	Mature miRNA region
ITGA5	Mature miRNA region
CSDE1	Mature miRNA region
PSMC5	Mature miRNA region
NF2	Mature miRNA region
FMNL2	Mature miRNA region
ABCC5	Mature miRNA region
CHCHD2	Mature miRNA region
CPT1B	Mature miRNA region
KRT28	Mature miRNA region
RPGRIP1L	Mature miRNA region
SAFB	Mature miRNA region
DCTD	Mature miRNA region
TUBG1	Mature miRNA region
COIL	Mature miRNA region
PRKRIP1	Mature miRNA region
KPNB1	Mature miRNA region
CTNNBL1	Mature miRNA region
PAK4	Mature miRNA region
LRIT1	Mature miRNA region
LDOC1L	Mature miRNA region
NXPE3	Mature miRNA region
AIF1L	Mature miRNA region
OTUD7B	Mature miRNA region
TARDBP	Mature miRNA region
CTNND1	Mature miRNA region
CEP350	Mature miRNA region
CDIPT	Mature miRNA region
HNRNPA3	Mature miRNA region
HYPK	Mature miRNA region
SRP72	Mature miRNA region
PPP4C	Mature miRNA region
PBRM1	Mature miRNA region
C9orf114	Mature miRNA region
SAE1	Mature miRNA region
BET1L	Mature miRNA region
EIF4G2	Mature miRNA region
YWHAZ	Mature miRNA region
NEU3	Mature miRNA region
NAPEPLD	Mature miRNA region
INO80D	Mature miRNA region
SCAMP5	Mature miRNA region
HNRNPD	Mature miRNA region
ACOT7	Mature miRNA region
VWA8	Mature miRNA region
ATP5A1	Mature miRNA region
PHGDH	Mature miRNA region
TIA1	Mature miRNA region
KDM5C	Mature miRNA region
CEP55	Mature miRNA region
MAD2L2	Mature miRNA region
CTDNEP1	Mature miRNA region
HNRNPUL1	Mature miRNA region
TUBA1B	Mature miRNA region
OPA3	Mature miRNA region
GAPDH	Mature miRNA region
SRCAP	Mature miRNA region
SORBS3	Mature miRNA region
IGF2BP1	Mature miRNA region
PTBP3	Mature miRNA region
LRBA	Mature miRNA region
ACLY	Mature miRNA region
PHC1	Mature miRNA region
NUP210	Mature miRNA region
MAPKAPK2	Mature miRNA region
C19orf10	Mature miRNA region
KCTD15	Mature miRNA region
CPNE1	Mature miRNA region
CDC42EP4	Mature miRNA region
SLC39A7	Mature miRNA region
CLSTN3	Mature miRNA region
ARL6IP1	Mature miRNA region
GTF2I	Mature miRNA region
MED19	Mature miRNA region
INTS10	Mature miRNA region
MPP2	Mature miRNA region
NAA50	Mature miRNA region
HADHB	Mature miRNA region
AP2M1	Mature miRNA region
SCD	Mature miRNA region
BAP1	Mature miRNA region
TNRC6B	Mature miRNA region
HIST4H4	Mature miRNA region
EEF2	Mature miRNA region
SLC16A13	Mature miRNA region
FOXK1	Mature miRNA region
NME2	Mature miRNA region
ERC1	Mature miRNA region
PHRF1	Mature miRNA region
PRDX4	Mature miRNA region
CTCF	Mature miRNA region
HIST1H3G	Mature miRNA region
PTPRF	Mature miRNA region
KMT2D	Mature miRNA region
RPL3	Mature miRNA region
DDX23	Mature miRNA region
SUPT5H	Mature miRNA region
PITPNB	Mature miRNA region
MDK	Mature miRNA region
ZNF687	Mature miRNA region
EML1	Mature miRNA region
ZDHHC7	Mature miRNA region
FOXP1	Mature miRNA region
C2orf44	Mature miRNA region
ZMYM2	Mature miRNA region
RUVBL2	Mature miRNA region
STAT5B	Mature miRNA region
CEP152	Mature miRNA region
GPI	Mature miRNA region
TSC22D3	Mature miRNA region
TRRAP	Mature miRNA region
PHF8	Mature miRNA region
POLR2D	Mature miRNA region
REXO2	Mature miRNA region
FEN1	Mature miRNA region
RPS15	Mature miRNA region
HNRNPA1	Mature miRNA region
CDKN1A	Mature miRNA region
AHCYL1	Mature miRNA region
ALS2	Mature miRNA region
SFPQ	Mature miRNA region
ADPRHL2	Mature miRNA region
KIF24	Mature miRNA region
RPL7A	Mature miRNA region
BRD2	Mature miRNA region
EPB41L2	Mature miRNA region
CRISP3	Mature miRNA region
RNF40	Mature miRNA region
SIK2	Mature miRNA region
PPP6R1	Mature miRNA region

Extended variants
information (count: 8144 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:8144 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530315036	chr5:179184923-179184924	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370446281	chr5:179184950-179184951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35727607	chr5:179184962-179184963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371711403	chr5:179184978-179184979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4700838	chr5:179185121-179185122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs546384255	chr5:179185170-179185171	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs575362237	chr5:179185177-179185178	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs536326621	chr5:179185259-179185260	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs566367873	chr5:179185316-179185317	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs150290121	chr5:179185389-179185390	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs373608436	chr5:179185390-179185391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs530390008	chr5:179185400-179185401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs200082414	chr5:179185403-179185404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs201760107	chr5:179185404-179185405	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs75835064	chr5:179185432-179185433	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs375280080	chr5:179185447-179185448	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs572790387	chr5:179185456-179185457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs183826047	chr5:179185470-179185471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs552124792	chr5:179185482-179185483	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs558591291	chr5:179185597-179185598	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs578243256	chr5:179185600-179185601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs189173556	chr5:179185671-179185672	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs62406187	chr5:179185686-179185687	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531040678	chr5:179185707-179185708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs543104085	chr5:179185714-179185715	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs529893671	chr5:179185730-179185731	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs192609842	chr5:179185731-179185732	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs10059303	chr5:179185732-179185733	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs185608899	chr5:179185813-179185814	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs571327132	chr5:179185833-179185834	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs532237204	chr5:179185873-179185874	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs190769630	chr5:179185896-179185897	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs569033704	chr5:179185993-179185994	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs116535293	chr5:179185996-179185997	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs546516102	chr5:179186038-179186039	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs554760947	chr5:179186099-179186100	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs566399098	chr5:179186106-179186107	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs181845807	chr5:179186126-179186127	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs555027024	chr5:179186155-179186156	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs533897329	chr5:179186184-179186185	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs558554128	chr5:179186185-179186186	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs6865507	chr5:179186197-179186198	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs545695100	chr5:179186210-179186211	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs557415141	chr5:179186226-179186227	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs6887507	chr5:179186237-179186238	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200535093	chr5:179186238-179186239	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs553207884	chr5:179186247-179186248	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs561533740	chr5:179186251-179186252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs573144560	chr5:179186258-179186259	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs528534571	chr5:179186271-179186272	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 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:8676 , 50 per page) page: 1 2 3 4 5 6 7 ... 174

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179161800-179188800	Weak transcription	NHDF-Ad	bronchial
2	chr5:179162000-179186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:179162000-179186000	Weak transcription	HSMM	muscle
4	chr5:179162000-179186200	Weak transcription	HMEC	breast
5	chr5:179162000-179186600	Weak transcription	Hela-S3	cervix
6	chr5:179162000-179190400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:179162600-179189000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:179164600-179186600	Weak transcription	NH-A	brain
9	chr5:179165800-179188800	Weak transcription	Brain Germinal Matrix	brain
10	chr5:179167000-179186600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:179167200-179188800	Weak transcription	NHEK	skin
12	chr5:179168000-179185800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:179171800-179188800	Weak transcription	Colonic Mucosa	Colon
14	chr5:179174400-179186600	Weak transcription	Esophagus	oesophagus
15	chr5:179174400-179192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:179177000-179188800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:179177200-179186600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:179177400-179186200	Weak transcription	HSMMtube	muscle
19	chr5:179177400-179187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:179177800-179186000	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:179177800-179188800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:179178000-179186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:179178000-179186800	Weak transcription	Placenta	Placenta
24	chr5:179178000-179187000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:179178000-179188600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:179178000-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:179178000-179188800	Weak transcription	Osteobl	bone
28	chr5:179178400-179186400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:179178600-179186200	Weak transcription	Dnd41	blood
30	chr5:179178600-179186600	Weak transcription	Thymus	Thymus
31	chr5:179179000-179185800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:179179000-179186000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:179179000-179186800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:179179000-179189200	Weak transcription	Fetal Brain Female	brain
35	chr5:179180800-179185200	Enhancers	Liver	Liver
36	chr5:179181000-179186600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:179181200-179185200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:179181600-179185200	Weak transcription	Primary B cells from cord blood	blood
39	chr5:179181600-179187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:179181800-179185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:179182000-179185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:179182000-179186600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:179182200-179186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:179182200-179188600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:179182200-179188600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:179182400-179186000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:179182400-179186000	Weak transcription	Aorta	Aorta
48	chr5:179182400-179186000	Weak transcription	Right Atrium	heart
49	chr5:179182400-179186000	Weak transcription	A549	lung
50	chr5:179182400-179186000	Weak transcription	GM12878-XiMat	blood

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