Variant report

Variant	rs8120065
Chromosome Location	chr20:25604655-25604656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr20:25604588-25605027	GM12892	blood:	n/a	n/a
2	PML	chr20:25604240-25605094	K562	blood:	n/a	n/a
3	RAD21	chr20:25604190-25604931	SK-N-SH_RA	brain:	n/a	chr20:25604588-25604602 chr20:25604588-25604601 chr20:25604586-25604600
4	POLR2A	chr20:25603743-25605454	Hela-S3	cervix:	n/a	n/a
5	POU2F2	chr20:25604360-25605211	GM12891	blood:	n/a	n/a
6	ETS1	chr20:25604504-25604899	GM12878	blood:	n/a	chr20:25604618-25604629
7	GTF2B	chr20:25604382-25605131	K562	blood:	n/a	n/a
8	CEBPD	chr20:25604204-25605307	HepG2	liver:	n/a	n/a
9	YY1	chr20:25604239-25605284	GM12891	blood:	n/a	chr20:25604387-25604401 chr20:25604616-25604630 chr20:25604348-25604359 chr20:25604390-25604404 chr20:25605267-25605276
10	RAD21	chr20:25604466-25604698	K562	blood:	n/a	chr20:25604588-25604602 chr20:25604588-25604601 chr20:25604586-25604600
11	CTCF	chr20:25604560-25604710	GM12865	blood:	n/a	n/a
12	TCF7L2	chr20:25603822-25605192	HCT-116	colon:	n/a	n/a
13	POLR2A	chr20:25604257-25605091	SK-N-SH	brain:	n/a	n/a
14	PAX5	chr20:25604034-25605145	GM12892	blood:	n/a	chr20:25605112-25605139 chr20:25604328-25604337
15	CEBPB	chr20:25604294-25604954	Hela-S3	cervix:	n/a	n/a
16	E2F4	chr20:25603954-25605528	K562	blood:	n/a	chr20:25604629-25604638 chr20:25604596-25604607 chr20:25605119-25605134 chr20:25604394-25604404 chr20:25605116-25605128
17	MXI1	chr20:25603613-25605065	Hela-S3	cervix:	n/a	n/a
18	ELF1	chr20:25603737-25604991	HepG2	liver:	n/a	chr20:25604587-25604599 chr20:25603832-25603841
19	JUND	chr20:25604284-25605347	K562	blood:	n/a	n/a
20	POLR2A	chr20:25604008-25605167	HUVEC	blood vessel:	n/a	n/a
21	NRF1	chr20:25604448-25604838	HepG2	liver:	n/a	chr20:25604628-25604637 chr20:25604628-25604642 chr20:25604625-25604639 chr20:25604624-25604633 chr20:25604630-25604639 chr20:25604627-25604638 chr20:25604628-25604639
22	TCF7L2	chr20:25604385-25604901	MCF-7	breast:	n/a	n/a
23	MAZ	chr20:25603686-25605342	GM12878	blood:	n/a	chr20:25603913-25603922 chr20:25603913-25603922
24	MAX	chr20:25603603-25605486	K562	blood:	n/a	chr20:25603913-25603922 chr20:25603913-25603922
25	MAFK	chr20:25604328-25605057	Hela-S3	cervix:	n/a	n/a
26	ELF1	chr20:25604296-25604902	A549	lung:	n/a	chr20:25604587-25604599
27	GATA3	chr20:25604150-25605341	MCF-7	breast:	n/a	n/a
28	POLR2A	chr20:25603585-25605618	HepG2	liver:	n/a	n/a
29	TEAD4	chr20:25604352-25605300	ECC-1	luminal epithelium:	n/a	n/a
30	TAF7	chr20:25604582-25605272	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr20:25604520-25604670	AG04450	lung:	n/a	n/a
32	ZNF263	chr20:25604448-25605376	HEK293-T-REx	kidney:	n/a	chr20:25604662-25604671
33	TAF1	chr20:25604203-25605095	PFSK-1	brain:	n/a	n/a
34	CHD1	chr20:25603826-25605423	GM12878	blood:	n/a	chr20:25605122-25605132 chr20:25604442-25604452
35	TEAD4	chr20:25604471-25605281	K562	blood:	n/a	n/a
36	CTCF	chr20:25604540-25604690	NHEK	skin:	n/a	n/a
37	JUND	chr20:25604426-25605249	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr20:25603787-25605260	A549	lung:	n/a	n/a
39	POLR2A	chr20:25604029-25605249	A549	lung:	n/a	n/a
40	KAP1	chr20:25604306-25605304	U2OS	brain:	n/a	n/a
41	POLR2A	chr20:25603725-25605447	GM12892	blood:	n/a	n/a
42	POU2F2	chr20:25604157-25605274	GM12878	blood:	n/a	n/a
43	POLR2A	chr20:25603865-25605348	MCF-7	breast:	n/a	n/a
44	STAT3	chr20:25604617-25604843	MCF10A-Er-Src	breast:	n/a	n/a
45	TAF1	chr20:25604591-25604926	SK-N-SH	brain:	n/a	n/a
46	TEAD4	chr20:25604309-25605114	SK-N-SH	brain:	n/a	n/a
47	BRCA1	chr20:25604003-25605491	HepG2	liver:	n/a	n/a
48	MAX	chr20:25603605-25605490	K562	blood:	n/a	chr20:25603913-25603922 chr20:25603913-25603922
49	TCF7L2	chr20:25604267-25604860	PANC-1	pancreas:	n/a	n/a
50	MYC	chr20:25604553-25604685	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25604643-25604693	NB4	blood:	n/a
2	chr20:25604643-25604693	PANC-1	pancreas:	n/a
3	chr20:25604643-25604693	Hela-S3	cervix:	n/a
4	chr20:25604643-25604693	SK-N-SH	brain:	n/a
5	chr20:25604643-25604693	ProgFib	skin:	n/a
6	chr20:25604643-25604693	NHBE	bronchial:	n/a
7	chr20:25604643-25604693	HEEpiC	esophagus:	n/a
8	chr20:25604643-25604693	MCF-7	breast:	n/a
9	chr20:25604643-25604693	NH-A	brain:	n/a
10	chr20:25604643-25604693	LNCaP	prostate:	n/a
11	chr20:25604643-25604693	Caco-2	colon:	n/a
12	chr20:25604643-25604693	T-47D	breast:	n/a
13	chr20:25604643-25604693	HCF	heart:	n/a
14	chr20:25604643-25604693	IMR90	lung:	fetal
15	chr20:25604643-25604693	AG09309	skin:	n/a
16	chr20:25604643-25604693	AG04450	lung:	fetal
17	chr20:25604643-25604693	HRE	kidney:	n/a
18	chr20:25604643-25604693	MCF10A-Er-Src	breast:	n/a
19	chr20:25604643-25604693	RPTEC	kidney:	n/a
20	chr20:25604643-25604693	H1-hESC	embryonic stem cell:	embryo
21	chr20:25604643-25604693	A549	lung:	n/a
22	chr20:25604643-25604693	HPAEpiC	pulmonary alveolar:	n/a
23	chr20:25604643-25604693	U87	brain:	n/a
24	chr20:25604643-25604693	BJ	skin:	n/a
25	chr20:25604643-25604693	CMK	blood:	n/a
26	chr20:25604643-25604693	HCT-116	colon:	n/a
27	chr20:25604643-25604693	HNPCEpiC	eye:	n/a
28	chr20:25604643-25604693	GM12878	blood:	n/a
29	chr20:25604643-25604693	HRCEpiC	kidney:	n/a
30	chr20:25604643-25604693	PFSK-1	brain:	n/a
31	chr20:25604643-25604693	SAEC	small airway:	n/a
32	chr20:25604643-25604693	AoSMC	blood vessel:	n/a
33	chr20:25604643-25604693	HUVEC	blood vessel:	n/a
34	chr20:25604643-25604693	Jurkat	blood:	n/a
35	chr20:25604643-25604693	HMEC	breast:	n/a
36	chr20:25604643-25604693	HepG2	liver:	n/a
37	chr20:25604643-25604693	PrEC	prostate:	n/a
38	chr20:25604643-25604693	SK-N-MC	brain:	n/a
39	chr20:25604643-25604693	ECC-1	luminal epithelium:	n/a
40	chr20:25604643-25604693	HL-60	blood:	n/a
41	chr20:25604643-25604693	NHDF-neo	bronchial:	n/a
42	chr20:25604643-25604693	HAEpiC	amniotic membrane:	n/a
43	chr20:25604643-25604693	SK-N-SH_RA	brain:	n/a
44	chr20:25604643-25604693	GM12891	blood:	n/a
45	chr20:25604643-25604693	BE2_C	brain:	n/a
46	chr20:25604643-25604693	Hepatocyte	liver:	n/a
47	chr20:25604643-25604693	SKMC	muscle:	n/a
48	chr20:25604643-25604693	AG10803	skin:	n/a
49	chr20:25604643-25604693	AG04449	skin:	fetal
50	chr20:25604643-25604693	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25563758..25567670-chr20:25600746..25606260,10	MCF-7	breast:
2	chr14:61115848..61116360-chr20:25604286..25605204,2	MCF-7	breast:
3	chr20:25590781..25592605-chr20:25602144..25606440,3	MCF-7	breast:
4	chr14:31676908..31677885-chr20:25604560..25605123,2	Hela-S3	cervix:
5	chr20:25603699..25606216-chr20:25676779..25679090,3	MCF-7	breast:
6	chr20:25564265..25567754-chr20:25602950..25606854,10	MCF-7	breast:
7	chr20:25474956..25477524-chr20:25604184..25606432,2	MCF-7	breast:
8	chr20:25601566..25607773-chr20:25608657..25615631,12	MCF-7	breast:
9	chr20:25604068..25607059-chr20:25675582..25678596,4	MCF-7	breast:
10	chr20:25602422..25607796-chr20:25675112..25679388,9	K562	blood:
11	chr20:24972575..24975462-chr20:25603621..25605250,2	K562	blood:
12	chr15:43477542..43478284-chr20:25604261..25605123,2	Hela-S3	cervix:
13	chr20:25475529..25477645-chr20:25603569..25606189,3	MCF-7	breast:
14	chr20:25591410..25597359-chr20:25600309..25606040,12	K562	blood:
15	chr20:25602721..25604667-chr6:41038688..41041497,2	MCF-7	breast:
16	chr20:25603625..25606406-chr20:25665177..25670447,5	MCF-7	breast:
17	chr10:22614751..22615680-chr20:25604638..25605211,2	Hela-S3	cervix:
18	chr20:25602965..25606226-chr20:25676160..25678613,3	K562	blood:

Variant related genes	Relation type
ZNF337-AS1	TF binding region
ZNF337-AS1	CpG island
ENSG00000168283	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000101474	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000130684	Chromatin interaction
ENSG00000001167	Chromatin interaction
ENSG00000126778	Chromatin interaction
ENSG00000213742	Chromatin interaction
ENSG00000251883	Chromatin interaction
ENSG00000124596	Chromatin interaction
ENSG00000101004	Chromatin interaction

Extended variants
information (count: 285 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:281)

rs_ID	r²[population]
rs1047171	1.00[JPT][hapmap]
rs10485776	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11087521	1.00[JPT][hapmap]
rs1109100	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1122769	1.00[JPT][hapmap]
rs11699203	1.00[JPT][hapmap]
rs12106173	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12428	1.00[JPT][hapmap]
rs1569617	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16987767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs16987786	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16987789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16987799	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16987820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16987934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16988014	1.00[JPT][hapmap]
rs1883528	1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1891771	0.90[EUR][1000 genomes]
rs1936188	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1936190	0.90[EUR][1000 genomes]
rs2006249	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2103661	0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2151144	1.00[JPT][hapmap]
rs2179458	1.00[JPT][hapmap]
rs2388026	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs242130	0.94[ASN][1000 genomes]
rs242133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2482918	1.00[JPT][hapmap]
rs2500436	1.00[JPT][hapmap]
rs2856	1.00[JPT][hapmap]
rs2892408	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35516971	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35666277	0.85[EUR][1000 genomes]
rs372678	1.00[JPT][hapmap]
rs3764695	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs397119	1.00[JPT][hapmap]
rs398036	1.00[JPT][hapmap]
rs401166	1.00[JPT][hapmap]
rs402120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs409401	0.82[EUR][1000 genomes]
rs4098823	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4098824	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4113658	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4113659	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4113661	0.81[ASN][1000 genomes]
rs4113662	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41308623	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417110	1.00[JPT][hapmap]
rs417130	1.00[JPT][hapmap]
rs422844	1.00[JPT][hapmap]
rs424487	1.00[JPT][hapmap]
rs426563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs428278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs431579	1.00[JPT][hapmap]
rs4318454	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs433352	1.00[JPT][hapmap]
rs4343537	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4368405	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437635	1.00[JPT][hapmap]
rs442834	1.00[JPT][hapmap]
rs446649	1.00[JPT][hapmap]
rs447808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs449370	1.00[JPT][hapmap]
rs449703	1.00[JPT][hapmap]
rs454723	1.00[JPT][hapmap]
rs4574179	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4813579	0.81[ASN][1000 genomes]
rs4815436	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4815445	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4815450	0.81[ASN][1000 genomes]
rs57638633	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58169034	0.82[EUR][1000 genomes]
rs58184048	0.85[EUR][1000 genomes]
rs58877578	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59399848	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6037131	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6037133	1.00[JPT][hapmap]
rs6037159	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6037167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037168	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037169	0.84[ASN][1000 genomes]
rs6037179	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037180	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037192	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6037193	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6037195	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6037196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6037198	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037204	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6037205	0.82[ASN][1000 genomes]
rs6037206	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6037208	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037212	0.94[ASN][1000 genomes]
rs6037217	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037220	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6037222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6037223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60394570	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs60463280	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050611	1.00[JPT][hapmap]
rs6050626	1.00[JPT][hapmap]
rs6050663	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6050692	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6050707	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050709	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050714	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050727	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050729	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050730	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050737	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050743	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6050745	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050749	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050751	0.81[AFR][1000 genomes]
rs6050753	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050754	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050755	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050756	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050758	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050763	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6050765	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050768	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6050770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050775	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050779	1.00[JPT][hapmap]
rs6050787	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050788	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050791	1.00[JPT][hapmap]
rs6050793	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050795	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050796	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6050799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050801	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050802	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050804	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050805	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6050807	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6050809	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050815	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6050825	0.81[ASN][1000 genomes]
rs6050832	0.94[ASN][1000 genomes]
rs6050833	0.81[ASN][1000 genomes]
rs6050834	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050835	0.94[ASN][1000 genomes]
rs6050838	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050840	0.81[ASN][1000 genomes]
rs6050841	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050846	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050847	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050848	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050851	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050853	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050854	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050858	1.00[JPT][hapmap]
rs6050867	1.00[JPT][hapmap]
rs6076372	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6083862	0.85[JPT][hapmap]
rs6083886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083896	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6083897	0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6083899	1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6083902	0.85[AFR][1000 genomes]
rs60897995	0.95[EUR][1000 genomes]
rs61052177	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6107045	1.00[JPT][hapmap]
rs6107047	1.00[JPT][hapmap]
rs6115191	1.00[JPT][hapmap]
rs6115200	1.00[JPT][hapmap]
rs6115214	1.00[JPT][hapmap]
rs6115215	1.00[JPT][hapmap]
rs6115220	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6115224	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6115232	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6132848	1.00[JPT][hapmap]
rs6132850	1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6138572	1.00[JPT][hapmap]
rs6138575	1.00[JPT][hapmap]
rs6138588	1.00[JPT][hapmap]
rs6138600	1.00[JPT][hapmap]
rs6138608	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6138612	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6138613	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs61494938	0.95[EUR][1000 genomes]
rs66467007	0.90[EUR][1000 genomes]
rs66673357	0.85[EUR][1000 genomes]
rs66813885	0.90[EUR][1000 genomes]
rs66927803	0.90[EUR][1000 genomes]
rs66940055	0.90[EUR][1000 genomes]
rs66983770	0.90[EUR][1000 genomes]
rs67679582	0.88[EUR][1000 genomes]
rs67680401	0.90[EUR][1000 genomes]
rs68149491	0.90[EUR][1000 genomes]
rs7260843	0.85[EUR][1000 genomes]
rs7261537	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7261902	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7266130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7266592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7269064	0.83[EUR][1000 genomes]
rs7270835	1.00[JPT][hapmap]
rs7274550	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73333513	0.85[EUR][1000 genomes]
rs73337339	0.90[EUR][1000 genomes]
rs73337343	0.90[EUR][1000 genomes]
rs73337346	0.90[EUR][1000 genomes]
rs73337349	0.90[EUR][1000 genomes]
rs73337355	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337356	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337364	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337366	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337369	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337372	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337394	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73337401	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73339323	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73339335	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73339360	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73339379	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73339383	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73339387	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73341305	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73341314	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73341328	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73341361	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73341363	0.91[ASN][1000 genomes]
rs73341365	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73341397	0.94[ASN][1000 genomes]
rs73343217	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73343255	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73343275	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73343292	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345232	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345249	0.95[EUR][1000 genomes]
rs73345259	0.82[EUR][1000 genomes]
rs73345264	0.93[EUR][1000 genomes]
rs73345278	0.90[EUR][1000 genomes]
rs73345286	0.90[EUR][1000 genomes]
rs7346687	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73597829	0.91[AMR][1000 genomes]
rs742435	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs761025	1.00[JPT][hapmap]
rs8115484	0.90[EUR][1000 genomes]
rs8115742	1.00[JPT][hapmap]
rs8116267	1.00[JPT][hapmap]
rs8116474	0.84[EUR][1000 genomes]
rs8117181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8117253	0.90[EUR][1000 genomes]
rs8120594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8120972	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8121013	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8121648	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs8122516	0.84[EUR][1000 genomes]
rs8125002	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8126111	0.90[EUR][1000 genomes]
rs8126236	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs84816	1.00[JPT][hapmap]
rs926486	1.00[JPT][hapmap]
rs926487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs928121	1.00[JPT][hapmap]
rs9753575	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs981440	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs981441	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9941769	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8120065	RP4-694B14.5	cis	Thyroid	GTEx
rs8120065	RP4-694B14.5	cis	lung	GTEx
rs8120065	ZNF337	cis	lung	GTEx
rs8120065	RP4-694B14.5	cis	Adipose Subcutaneous	GTEx
rs8120065	ZNF337	cis	Adipose Subcutaneous	GTEx
rs8120065	ZNF337	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25603000-25605000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:25603000-25605200	Active TSS	HSMMtube	muscle
3	chr20:25603000-25605200	Active TSS	NHDF-Ad	bronchial
4	chr20:25603000-25606000	Active TSS	K562	blood
5	chr20:25603200-25605000	Active TSS	Fetal Muscle Trunk	muscle
6	chr20:25603200-25605000	Active TSS	NHLF	lung
7	chr20:25603200-25605200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:25603200-25605200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr20:25603200-25605600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:25603200-25605600	Active TSS	Fetal Intestine Small	intestine
11	chr20:25603200-25605800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:25603400-25605000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr20:25603400-25605000	Active TSS	Lung	lung
14	chr20:25603400-25605000	Bivalent/Poised TSS	HepG2	liver
15	chr20:25603400-25605200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:25603400-25605200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:25603400-25605200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:25603400-25605200	Active TSS	Brain Angular Gyrus	brain
19	chr20:25603400-25605200	Active TSS	Fetal Intestine Large	intestine
20	chr20:25603400-25605200	Active TSS	Fetal Stomach	stomach
21	chr20:25603400-25605200	Active TSS	Left Ventricle	heart
22	chr20:25603400-25605200	Active TSS	Stomach Smooth Muscle	stomach
23	chr20:25603400-25605400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr20:25603400-25605400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:25603400-25605400	Active TSS	Ovary	ovary
26	chr20:25603400-25605600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr20:25603400-25605600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr20:25603400-25605600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr20:25603400-25605600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr20:25603400-25605600	Active TSS	Fetal Lung	lung
31	chr20:25603400-25605600	Active TSS	HSMM	muscle
32	chr20:25603400-25606600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:25603600-25604800	Active TSS	Right Ventricle	heart
34	chr20:25603600-25605000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:25603600-25605200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:25603600-25605200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:25603600-25605200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr20:25603600-25605200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr20:25603600-25605200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr20:25603600-25605200	Active TSS	Brain Cingulate Gyrus	brain
41	chr20:25603600-25605200	Active TSS	Esophagus	oesophagus
42	chr20:25603600-25605200	Active TSS	Fetal Thymus	thymus
43	chr20:25603600-25605200	Active TSS	Psoas Muscle	Psoas
44	chr20:25603600-25605200	Active TSS	Stomach Mucosa	stomach
45	chr20:25603600-25605200	Active TSS	GM12878-XiMat	blood
46	chr20:25603600-25605200	Active TSS	NH-A	brain
47	chr20:25603600-25605400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr20:25603600-25605400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr20:25603600-25605400	Active TSS	Aorta	Aorta
50	chr20:25603600-25605400	Active TSS	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

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