Variant report

Variant	rs626787
Chromosome Location	chr1:62901243-62901244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:62901048-62903666	IMR90	lung:	n/a	n/a
2	STAT5A	chr1:62901228-62903164	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:62900978-62903333	HUVEC	blood vessel:	n/a	n/a
4	GATA1	chr1:62901165-62904623	PBDE	blood:	n/a	n/a
5	SIN3A	chr1:62901150-62904241	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:62900856-62903303	U87	brain:	n/a	n/a
7	ZMIZ1	chr1:62901080-62903391	K562	blood:	n/a	n/a
8	PML	chr1:62900966-62903568	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:62900960-62902197	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:62901025-62901359	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:62901175-62902139	U87	brain:	n/a	n/a
12	YY1	chr1:62901082-62903588	SK-N-SH	brain:	n/a	chr1:62902837-62902851 chr1:62901911-62901921 chr1:62903327-62903336 chr1:62902679-62902693 chr1:62903344-62903358 chr1:62901892-62901901 chr1:62903102-62903116 chr1:62901911-62901933
13	POLR2A	chr1:62900966-62903200	K562	blood:	n/a	n/a
14	POLR2A	chr1:62901083-62904451	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:62899604-62903300	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:62900961-62903469	Hela-S3	cervix:	n/a	n/a
17	TBP	chr1:62901117-62903528	K562	blood:	n/a	n/a
18	RUNX3	chr1:62901122-62903320	GM12878	blood:	n/a	n/a
19	HEY1	chr1:62900903-62902971	HepG2	liver:	n/a	chr1:62902671-62902686
20	POLR2A	chr1:62900960-62902139	U87	brain:	n/a	n/a
21	POLR2A	chr1:62899934-62903502	SK-N-MC	brain:	n/a	n/a
22	ZKSCAN1	chr1:62901098-62902906	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:62900929-62902194	ECC-1	luminal epithelium:	n/a	n/a
24	RELA	chr1:62901223-62902876	GM18951	blood:	n/a	n/a
25	POLR2A	chr1:62900764-62902188	GM12892	blood:	n/a	n/a
26	POLR2A	chr1:62900953-62903265	GM18526	blood:	n/a	n/a
27	POLR2A	chr1:62900862-62903303	U87	brain:	n/a	n/a
28	POLR2A	chr1:62900886-62903411	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:62900963-62903386	HCT-116	colon:	n/a	n/a
30	POLR2A	chr1:62900965-62902478	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr1:62900940-62902201	HL-60	blood:	n/a	n/a
32	POLR2A	chr1:62901052-62903472	GM18505	blood:	n/a	n/a
33	POLR2A	chr1:62900856-62903535	K562	blood:	n/a	n/a
34	POLR2A	chr1:62900868-62902187	PFSK-1	brain:	n/a	n/a
35	ESRRA	chr1:62901022-62903119	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:62900888-62903514	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr1:62901001-62903666	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:62899936-62903273	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr1:62899313-62903762	GM12891	blood:	n/a	n/a
40	POLR2A	chr1:62900920-62902214	Hela-S3	cervix:	n/a	n/a
41	SMC3	chr1:62901196-62902991	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:62900886-62903023	GM12878	blood:	n/a	n/a
43	RCOR1	chr1:62901029-62903426	K562	blood:	n/a	n/a
44	POLR2A	chr1:62901030-62903635	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr1:62900902-62903141	HCT-116	colon:	n/a	n/a
46	POLR2A	chr1:62901028-62903489	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZNF143	chr1:62901239-62902806	K562	blood:	n/a	chr1:62902256-62902274 chr1:62902254-62902264 chr1:62902682-62902692
48	NR2F2	chr1:62901044-62903169	K562	blood:	n/a	n/a
49	TBP	chr1:62901194-62903388	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:62900932-62903004	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62901199-62901249	AG09309	skin:	n/a
2	chr1:62901199-62901249	PANC-1	pancreas:	n/a
3	chr1:62901199-62901249	IMR90	lung:	fetal
4	chr1:62901199-62901249	PFSK-1	brain:	n/a
5	chr1:62901199-62901249	HRPEpiC	eye:	n/a
6	chr1:62901199-62901249	SK-N-SH	brain:	n/a
7	chr1:62901199-62901249	HCM	heart:	n/a
8	chr1:62901199-62901249	HepG2	liver:	n/a
9	chr1:62901199-62901249	NHBE	bronchial:	n/a
10	chr1:62901199-62901249	NB4	blood:	n/a
11	chr1:62901199-62901249	GM19239	blood:	n/a
12	chr1:62901199-62901249	AG04450	lung:	fetal
13	chr1:62901199-62901249	HL-60	blood:	n/a
14	chr1:62901199-62901249	HEK293	kidney:	embryo
15	chr1:62901199-62901249	Hela-S3	cervix:	n/a
16	chr1:62901199-62901249	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:62901199-62901249	HCPEpiC	choroid plexus:	n/a
18	chr1:62901199-62901249	GM12892	blood:	n/a
19	chr1:62901199-62901249	AG04449	skin:	fetal
20	chr1:62901199-62901249	U87	brain:	n/a
21	chr1:62901199-62901249	HCT-116	colon:	n/a
22	chr1:62901199-62901249	BJ	skin:	n/a
23	chr1:62901199-62901249	AG10803	skin:	n/a
24	chr1:62901199-62901249	HMEC	breast:	n/a
25	chr1:62901199-62901249	H1-hESC	embryonic stem cell:	embryo
26	chr1:62901199-62901249	GM06990	blood:	n/a
27	chr1:62901199-62901249	Caco-2	colon:	n/a
28	chr1:62901199-62901249	HRCEpiC	kidney:	n/a
29	chr1:62901199-62901249	HNPCEpiC	eye:	n/a
30	chr1:62901199-62901249	MCF10A-Er-Src	breast:	n/a
31	chr1:62901199-62901249	HIPEpiC	eye:	n/a
32	chr1:62901199-62901249	K562	blood:	n/a
33	chr1:62901199-62901249	T-47D	breast:	n/a
34	chr1:62901199-62901249	HRE	kidney:	n/a
35	chr1:62901199-62901249	GM12878	blood:	n/a
36	chr1:62901199-62901249	HAEpiC	amniotic membrane:	n/a
37	chr1:62901199-62901249	NT2-D1	testis:	n/a
38	chr1:62901199-62901249	SK-N-SH_RA	brain:	n/a
39	chr1:62901199-62901249	ProgFib	skin:	n/a
40	chr1:62901199-62901249	SKMC	muscle:	n/a
41	chr1:62901199-62901249	Jurkat	blood:	n/a
42	chr1:62901199-62901249	Hepatocyte	liver:	n/a
43	chr1:62901199-62901249	AG09319	gingival:	n/a
44	chr1:62901199-62901249	ECC-1	luminal epithelium:	n/a
45	chr1:62901199-62901249	SAEC	small airway:	n/a
46	chr1:62901199-62901249	GM12891	blood:	n/a
47	chr1:62901199-62901249	LNCaP	prostate:	n/a
48	chr1:62901199-62901249	CMK	blood:	n/a
49	chr1:62901199-62901249	NH-A	brain:	n/a
50	chr1:62901199-62901249	MCF-7	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:62901235..62902370-chr5:108063481..108064306,3	Hela-S3	cervix:
2	chr1:62899539..62901299-chr1:62907455..62909142,2	MCF-7	breast:
3	chr1:53793068..53794573-chr1:62900533..62902613,2	MCF-7	breast:
4	chr1:62190320..62192154-chr1:62900473..62901978,2	MCF-7	breast:
5	chr1:62901242..62902144-chr3:156877661..156878193,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
USP1	TF binding region
USP1	CpG island
ENSG00000225675	Chromatin interaction
ENSG00000162604	Chromatin interaction
ENSG00000272523	Chromatin interaction
ENSG00000157193	Chromatin interaction
ENSG00000163660	Chromatin interaction

Extended variants
information (count: 200 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:199)

rs_ID	r²[population]
rs1002687	1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1007205	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs10157265	1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10158897	0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10159255	0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs10493322	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10789112	0.98[EUR][1000 genomes]
rs10789113	0.96[EUR][1000 genomes]
rs10789117	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789118	0.87[EUR][1000 genomes]
rs10789119	0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs10789120	0.83[EUR][1000 genomes]
rs10889330	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889331	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889332	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889333	0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs10889334	0.98[EUR][1000 genomes]
rs10889335	0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs10889337	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889338	0.96[EUR][1000 genomes]
rs10889339	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10889340	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10889342	0.85[EUR][1000 genomes]
rs10889343	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10889344	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10889347	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889348	0.85[EUR][1000 genomes]
rs10889349	1.00[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889350	1.00[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889352	0.87[EUR][1000 genomes]
rs10889353	0.85[EUR][1000 genomes]
rs10889354	0.84[EUR][1000 genomes]
rs11207969	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207970	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11207972	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11207974	1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207976	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207977	0.96[EUR][1000 genomes]
rs11207979	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207980	0.96[EUR][1000 genomes]
rs11207981	1.00[CHB][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11207982	0.96[EUR][1000 genomes]
rs11207983	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207984	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207985	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207986	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207990	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207992	0.89[EUR][1000 genomes]
rs11207995	0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs11207996	0.88[EUR][1000 genomes]
rs11207997	0.93[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11207999	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11208000	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11208001	0.84[EUR][1000 genomes]
rs11485618	0.87[EUR][1000 genomes]
rs11577840	1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11588261	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167996	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1167998	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[TSI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168001	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168002	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168003	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168009	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[TSI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168010	1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[TSI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168013	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168015	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168017	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168018	0.93[CHB][hapmap];0.97[CHD][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168020	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168021	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168022	1.00[CHB][hapmap];0.80[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168023	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168026	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168027	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168028	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168029	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168030	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168031	1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1168032	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168034	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168036	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168040	0.93[CHB][hapmap];0.97[CHD][hapmap];0.82[TSI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168041	0.82[TSI][hapmap]
rs1168042	1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1168044	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1168045	0.80[CHB][hapmap];0.94[CHD][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1168046	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1168047	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1168050	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1168085	0.85[EUR][1000 genomes]
rs1168086	0.85[EUR][1000 genomes]
rs1168089	0.85[EUR][1000 genomes]
rs1168093	0.85[EUR][1000 genomes]
rs1168097	0.85[EUR][1000 genomes]
rs1168098	0.85[EUR][1000 genomes]
rs1168099	0.85[EUR][1000 genomes]
rs1168102	0.85[EUR][1000 genomes]
rs1168103	0.85[EUR][1000 genomes]
rs1168124	0.84[EUR][1000 genomes]
rs1168132	0.81[EUR][1000 genomes]
rs1177541	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1179765	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1183260	1.00[CHB][hapmap];0.80[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1184547	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1184865	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12023489	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12025800	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12029068	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037659	0.98[EUR][1000 genomes]
rs12038768	0.89[EUR][1000 genomes]
rs12042319	0.88[EUR][1000 genomes]
rs12047226	0.87[EUR][1000 genomes]
rs12062275	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12074528	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12090886	0.81[CEU][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12116574	0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs12124281	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12239736	0.82[EUR][1000 genomes]
rs12239737	0.81[EUR][1000 genomes]
rs12403207	1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1305520	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1305521	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1472257	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1570694	0.87[EUR][1000 genomes]
rs1627591	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1629122	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1690755	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1690761	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1690766	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1748195	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1748197	0.86[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes]
rs1748199	0.93[CHB][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs1748200	1.00[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748201	0.93[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1781195	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1781212	1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1781221	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1979722	0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs2029763	0.96[EUR][1000 genomes]
rs2131925	1.00[CHB][hapmap];0.80[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2131926	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2366636	0.87[EUR][1000 genomes]
rs2366638	1.00[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2479464	0.85[EUR][1000 genomes]
rs2489835	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34152715	0.89[EUR][1000 genomes]
rs3850634	0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs3913007	0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4329540	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4350231	0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4495740	0.85[EUR][1000 genomes]
rs4587594	0.84[EUR][1000 genomes]
rs4915838	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4915840	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs583609	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[TSI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597076	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597078	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597470	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs598253	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61471917	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61775910	0.92[EUR][1000 genomes]
rs624660	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs624700	0.89[ASN][1000 genomes]
rs630144	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs631106	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634341	1.00[CHB][hapmap];0.80[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs636497	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs636523	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs637723	0.87[CHB][hapmap];0.97[CHD][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs638305	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641540	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs642845	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656297	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[TSI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587976	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587980	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs659656	1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675401	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6678483	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6690733	0.93[CHB][hapmap];0.97[CHD][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6693353	0.86[EUR][1000 genomes]
rs6696502	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs746735	0.85[EUR][1000 genomes]
rs7519785	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520810	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7527004	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7534572	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7539035	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7547965	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7548877	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7555577	1.00[CHB][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs783291	1.00[CHB][hapmap];0.80[JPT][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9436221	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436222	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9436223	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9436661	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs993013	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs995000	0.87[EUR][1000 genomes]
rs998403	0.98[EUR][1000 genomes]
rs9988450	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs626787	DOCK7	cis	uninvolved skin	skin_eQTL
rs626787	DOCK7	cis	multi-tissue	Pritchard
rs626787	DOCK7	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62900400-62901400	Enhancers	Gastric	stomach
2	chr1:62900400-62904200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:62900800-62901400	Flanking Active TSS	Dnd41	blood
4	chr1:62900800-62901800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:62901000-62901400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:62901000-62901400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:62901000-62901400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:62901000-62901400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:62901000-62901400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:62901000-62901400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:62901000-62901400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:62901000-62901400	Enhancers	Aorta	Aorta
13	chr1:62901000-62901400	Flanking Active TSS	Liver	Liver
14	chr1:62901000-62901400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:62901000-62901400	Flanking Active TSS	Fetal Thymus	thymus
16	chr1:62901000-62901400	Flanking Active TSS	Pancreas	Pancrea
17	chr1:62901000-62901400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:62901000-62901400	Flanking Active TSS	Thymus	Thymus
19	chr1:62901000-62901400	Flanking Active TSS	HMEC	breast
20	chr1:62901000-62901400	Flanking Active TSS	K562	blood
21	chr1:62901000-62901400	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:62901000-62901600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:62901000-62901600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:62901000-62901600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:62901000-62901600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr1:62901000-62901600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:62901000-62901600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr1:62901000-62901600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr1:62901000-62901600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:62901000-62901600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:62901000-62901600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:62901000-62901600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:62901000-62901600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:62901000-62901600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:62901000-62901600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:62901000-62901600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:62901000-62901600	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr1:62901000-62901600	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr1:62901000-62901600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr1:62901000-62901600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:62901000-62901600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr1:62901000-62901600	Flanking Active TSS	Fetal Brain Male	brain
43	chr1:62901000-62901600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr1:62901000-62901600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:62901000-62901600	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr1:62901000-62901600	Flanking Active TSS	Stomach Mucosa	stomach
47	chr1:62901000-62901600	Flanking Active TSS	Hela-S3	cervix
48	chr1:62901000-62901600	Flanking Active TSS	NHEK	skin
49	chr1:62901000-62901600	Flanking Active TSS	Osteobl	bone
50	chr1:62901000-62901800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

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