Variant report

Variant	rs7621785
Chromosome Location	chr3:48343708-48343709
allele	C/T
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	POLR2A	chr3:48341816-48344787	Raji	blood:	n/a	n/a
2	BHLHE40	chr3:48342546-48343712	GM12878	blood:	n/a	chr3:48342640-48342656
3	POLR2A	chr3:48341465-48343731	K562	blood:	n/a	n/a
4	NFIC	chr3:48341637-48343830	GM12878	blood:	n/a	chr3:48343461-48343478 chr3:48343461-48343477
5	POLR2A	chr3:48341101-48344338	GM12878	blood:	n/a	n/a
6	CREB1	chr3:48342481-48343726	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:48342384-48343720	Hela-S3	cervix:	n/a	n/a
8	SIN3AK20	chr3:48342526-48343814	MCF-7	breast:	n/a	n/a
9	MAX	chr3:48341811-48343777	HepG2	liver:	n/a	chr3:48342982-48342991
10	POLR2A	chr3:48341561-48343847	GM12892	blood:	n/a	n/a
11	POLR2A	chr3:48342280-48344016	HUVEC	blood vessel:	n/a	n/a
12	MYC	chr3:48342601-48343712	Hela-S3	cervix:	n/a	chr3:48342982-48342991
13	POLR2A	chr3:48341346-48344772	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:48342411-48343724	GM12891	blood:	n/a	n/a
15	POLR2A	chr3:48342413-48343741	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr3:48342321-48343716	Hela-S3	cervix:	n/a	n/a
17	E2F6	chr3:48342389-48343758	A549	lung:	n/a	n/a
18	POLR2A	chr3:48342362-48343934	GM12892	blood:	n/a	n/a
19	HCFC1	chr3:48341766-48343762	Hela-S3	cervix:	n/a	n/a
20	MTA3	chr3:48341098-48344793	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:48342610-48343751	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr3:48342397-48343996	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr3:48341717-48343724	HL-60	blood:	n/a	n/a
24	POLR2A	chr3:48342119-48343942	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:48341663-48343820	GM12892	blood:	n/a	n/a
26	NFIC	chr3:48342688-48343764	ECC-1	luminal epithelium:	n/a	chr3:48343461-48343478 chr3:48343461-48343477
27	MYC	chr3:48342291-48343752	A549	lung:	n/a	chr3:48342982-48342991
28	POLR2A	chr3:48342290-48343730	Hela-S3	cervix:	n/a	n/a
29	MAX	chr3:48342355-48343751	ECC-1	luminal epithelium:	n/a	chr3:48342982-48342991
30	ZNF384	chr3:48343520-48343918	GM12878	blood:	n/a	n/a
31	RUNX3	chr3:48342398-48343761	GM12878	blood:	n/a	n/a
32	PML	chr3:48341549-48343806	GM12878	blood:	n/a	chr3:48341895-48341903 chr3:48343249-48343257
33	MAX	chr3:48342379-48343713	MCF-7	breast:	n/a	chr3:48342982-48342991
34	MAX	chr3:48342505-48343743	A549	lung:	n/a	chr3:48342982-48342991
35	GTF2F1	chr3:48342711-48343910	Hela-S3	cervix:	n/a	n/a
36	E2F6	chr3:48342602-48343753	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr3:48342438-48343746	Hela-S3	cervix:	n/a	chr3:48342982-48342991
38	STAT5A	chr3:48342371-48343754	GM12878	blood:	n/a	chr3:48343648-48343660 chr3:48343297-48343306 chr3:48343298-48343307
39	ZNF384	chr3:48343563-48343731	K562	blood:	n/a	n/a
40	MAX	chr3:48342318-48343787	HCT-116	colon:	n/a	chr3:48342982-48342991
41	POLR2A	chr3:48343390-48343761	K562	blood:	n/a	n/a
42	MAX	chr3:48342394-48343775	A549	lung:	n/a	chr3:48342982-48342991
43	POLR2A	chr3:48341295-48344884	GM12891	blood:	n/a	n/a
44	TBP	chr3:48342510-48343930	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr3:48341426-48343722	GM12878	blood:	n/a	n/a
46	MAX	chr3:48342342-48343784	ECC-1	luminal epithelium:	n/a	chr3:48342982-48342991
47	EGR1	chr3:48342121-48343720	HCT-116	colon:	n/a	chr3:48343228-48343237 chr3:48342632-48342645 chr3:48342633-48342643 chr3:48342631-48342645 chr3:48342633-48342643 chr3:48342633-48342642 chr3:48342632-48342645 chr3:48342632-48342645
48	POLR2A	chr3:48341607-48343863	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48343201..48345959-chr3:48358674..48361429,2	MCF-7	breast:
2	chr3:48341906..48343941-chr5:172755469..172757173,2	MCF-7	breast:
3	chr3:48342864..48345435-chr3:48356461..48358274,2	K562	blood:
4	chr3:48281295..48284269-chr3:48341390..48344515,3	MCF-7	breast:
5	chr3:48341336..48343730-chr3:48444609..48447589,3	K562	blood:
6	chr3:48341872..48344261-chr3:48469680..48472661,4	MCF-7	breast:
7	chr3:48341768..48344382-chr3:48487005..48489358,2	K562	blood:
8	chr3:48335073..48340448-chr3:48341483..48344077,7	K562	blood:
9	chr19:3557179..3557989-chr3:48343005..48343718,2	Hela-S3	cervix:
10	chr3:48342750..48344803-chr3:48480393..48482278,2	MCF-7	breast:
11	chr3:48343538..48345224-chr3:48461566..48463266,2	MCF-7	breast:

Variant related genes	Relation type
NME6	TF binding region
ENSG00000164051	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000164053	Chromatin interaction
ENSG00000113739	Chromatin interaction
ENSG00000252466	Chromatin interaction
ENSG00000164048	Chromatin interaction
ENSG00000172113	Chromatin interaction
ENSG00000161091	Chromatin interaction
ENSG00000164050	Chromatin interaction
ENSG00000244380	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 50 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1045482	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs11130162	0.83[EUR][1000 genomes]
rs11130163	0.83[EUR][1000 genomes]
rs11130164	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134867	0.84[EUR][1000 genomes]
rs11706221	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707606	0.84[EUR][1000 genomes]
rs11707997	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709691	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11710257	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710861	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs11713476	0.85[EUR][1000 genomes]
rs11714176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714944	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715776	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715799	0.92[EUR][1000 genomes]
rs11715876	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11716371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716848	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717716	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11718329	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes]
rs11718350	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719365	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11928691	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12486935	1.00[JPT][hapmap]
rs12486944	1.00[JPT][hapmap]
rs13059037	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13060020	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066044	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066758	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13067450	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13068265	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13068288	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13069029	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070210	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071960	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072018	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13079728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081169	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081633	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082158	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084616	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13087050	0.92[JPT][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs13087929	0.84[EUR][1000 genomes]
rs13090538	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13094727	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13095983	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097450	0.94[EUR][1000 genomes]
rs13100815	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17647717	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17786132	0.89[EUR][1000 genomes]
rs2125482	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361685	0.84[EUR][1000 genomes]
rs2541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197223	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34076262	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34225441	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34523942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589064	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34630841	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34728236	0.93[EUR][1000 genomes]
rs34749846	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190747	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297486	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35411187	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35414021	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35456569	0.89[EUR][1000 genomes]
rs35778847	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35802497	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35944878	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36020562	0.92[EUR][1000 genomes]
rs36064160	0.84[EUR][1000 genomes]
rs36075665	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36092070	0.97[EUR][1000 genomes]
rs36121690	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729577	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs3731487	0.84[EUR][1000 genomes]
rs3731489	0.84[EUR][1000 genomes]
rs3731497	0.84[EUR][1000 genomes]
rs3731513	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs3731515	0.84[EUR][1000 genomes]
rs3731534	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs3731550	0.83[EUR][1000 genomes]
rs3731555	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs3937	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4130522	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130995	0.83[EUR][1000 genomes]
rs4131361	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131362	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4371540	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392440	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4404473	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4420898	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4511915	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.94[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4511916	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541431	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619808	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632568	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442110	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs6442111	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6775179	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6782166	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787500	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs6791930	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6793150	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793223	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793239	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794644	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6796343	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6796490	0.84[CEU][hapmap]
rs6800492	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6801801	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6804986	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806112	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs71323391	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71323394	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71323395	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71323396	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71323397	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs745116	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7614532	0.96[EUR][1000 genomes]
rs7619865	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7624450	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632297	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636461	0.94[EUR][1000 genomes]
rs7644414	0.84[EUR][1000 genomes]
rs7645425	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647817	0.84[EUR][1000 genomes]
rs7648720	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7652233	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653152	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653336	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311421	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs936426	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs936427	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9818937	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9819094	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9825637	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830016	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831531	0.84[EUR][1000 genomes]
rs9833309	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9834095	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9837228	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9846818	0.81[EUR][1000 genomes]
rs9847953	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9850672	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs9853804	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:50)

SNP	Gene	Cis/trans	Tissue	Source
rs7621785	MRPS18AP1	cis	Stomach	GTEx
rs7621785	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs7621785	ZNF589	cis	Thyroid	GTEx
rs7621785	MRPS18AP1	cis	Artery Aorta	GTEx
rs7621785	CDC25A	cis	Thyroid	GTEx
rs7621785	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs7621785	NME6	cis	lymphoblastoid	seeQTL
rs7621785	CDC25A	cis	Muscle Skeletal	GTEx
rs7621785	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs7621785	NME6	cis	Esophagus Muscularis	GTEx
rs7621785	ZNF589	cis	Cerebellum	GTEx
rs7621785	MRPS18AP1	cis	Thyroid	GTEx
rs7621785	CDCP1	cis	cerebellum	SCAN
rs7621785	DALRD3	cis	cerebellum	SCAN
rs7621785	MRPS18AP1	cis	Nerve Tibial	GTEx
rs7621785	CDC25A	cis	Adipose Subcutaneous	GTEx
rs7621785	NME6	cis	cerebellum	SCAN
rs7621785	MRPS18AP1	cis	Artery Tibial	GTEx
rs7621785	ZNF589	cis	Adipose Subcutaneous	GTEx
rs7621785	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs7621785	ZNF589	cis	Esophagus Muscularis	GTEx
rs7621785	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs7621785	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs7621785	NME6	cis	Artery Tibial	GTEx
rs7621785	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs7621785	ZNF589	Cis_1M	lymphoblastoid	RTeQTL
rs7621785	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs7621785	ZNF589	cis	cerebellum	SCAN
rs7621785	ZNF589	cis	Esophagus Mucosa	GTEx
rs7621785	AMT	cis	parietal	SCAN
rs7621785	IQCF2	cis	parietal	SCAN
rs7621785	ZNF589	cis	Stomach	GTEx
rs7621785	FCF1P2	cis	Artery Tibial	GTEx
rs7621785	PLXNB1	cis	parietal	SCAN
rs7621785	NME6	cis	Nerve Tibial	GTEx
rs7621785	ZNF589	cis	Artery Tibial	GTEx
rs7621785	ZNF589	cis	Nerve Tibial	GTEx
rs7621785	ARIH2	cis	parietal	SCAN
rs7621785	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs7621785	ZNF589	cis	parietal	SCAN
rs7621785	ZNF589	cis	lung	GTEx
rs7621785	NME6	cis	multi-tissue	Pritchard
rs7621785	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7621785	SPINK8	cis	Whole Blood	GTEx
rs7621785	ZNF589	cis	Brain Pons	GTEx
rs7621785	CDC25A	cis	cerebellum	SCAN
rs7621785	MRPS18AP1	cis	lung	GTEx
rs7621785	NME6	cis	Muscle Skeletal	GTEx
rs7621785	CDC25A	cis	Artery Tibial	GTEx
rs7621785	ZNF589	cis	Artery Aorta	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48341800-48343800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr3:48341800-48343800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:48341800-48343800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr3:48341800-48343800	Flanking Active TSS	HMEC	breast
5	chr3:48342000-48343800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:48342200-48343800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:48342200-48343800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr3:48342200-48343800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:48342200-48343800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:48342200-48343800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:48342200-48343800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:48342200-48343800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:48342200-48343800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr3:48342200-48343800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:48342200-48343800	Active TSS	Left Ventricle	heart
16	chr3:48342200-48343800	Active TSS	Psoas Muscle	Psoas
17	chr3:48342200-48343800	Active TSS	Right Atrium	heart
18	chr3:48342200-48343800	Active TSS	HSMMtube	muscle
19	chr3:48342200-48343800	Active TSS	NHDF-Ad	bronchial
20	chr3:48342200-48344000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:48342200-48344000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:48342200-48344000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:48342200-48344000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:48342200-48344000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:48342200-48344000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr3:48342200-48344000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:48342200-48344000	Active TSS	Brain Hippocampus Middle	brain
28	chr3:48342200-48344000	Active TSS	A549	lung
29	chr3:48342200-48344000	Active TSS	HSMM	muscle
30	chr3:48342200-48344400	Active TSS	Colon Smooth Muscle	Colon
31	chr3:48342400-48343800	Active TSS	Fetal Muscle Trunk	muscle
32	chr3:48342400-48344000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr3:48343000-48343800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:48343000-48343800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:48343000-48344000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:48343000-48344000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:48343200-48343800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:48343200-48343800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr3:48343200-48343800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr3:48343200-48343800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr3:48343200-48343800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr3:48343200-48343800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr3:48343200-48343800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:48343200-48343800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:48343200-48343800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr3:48343200-48343800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:48343200-48343800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr3:48343200-48343800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr3:48343200-48343800	Flanking Active TSS	Liver	Liver
50	chr3:48343200-48343800	Flanking Active TSS	Brain Germinal Matrix	brain

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Variant report

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