Variant report

Variant	rs9838618
Chromosome Location	chr3:48487353-48487354
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48487104-48487523	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr3:48485860-48488666	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:48487135-48487483	HCT-116	colon:	n/a	n/a
4	POLR2A	chr3:48485350-48488730	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr3:48486507-48487435	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr3:48487079-48488641	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr3:48487333-48488777	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr3:48485975-48487498	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr3:48486660-48488714	GM12892	blood:	n/a	n/a
10	MTA3	chr3:48485674-48488326	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:48485480-48488528	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr3:48485793-48487443	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr3:48487273-48489484	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr3:48485560-48487612	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr3:48485869-48488641	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr3:48485898-48488594	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:48485436-48488575	GM12892	blood:	n/a	n/a
18	POLR2A	chr3:48485870-48488879	K562	blood:	n/a	n/a
19	POLR2A	chr3:48487294-48488408	GM12892	blood:	n/a	n/a
20	POLR2A	chr3:48485493-48489452	HepG2	liver:	n/a	n/a
21	POLR2A	chr3:48487066-48488590	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr3:48485778-48488613	GM12891	blood:	n/a	n/a
23	REST	chr3:48487347-48488692	H1-neurons	neurons:	n/a	chr3:48487586-48487599 chr3:48488122-48488135
24	POLR2A	chr3:48486588-48488643	GM12892	blood:	n/a	n/a
25	POLR2A	chr3:48486647-48488468	GM12891	blood:	n/a	n/a
26	POLR2A	chr3:48485586-48487509	K562	blood:	n/a	n/a
27	POLR2A	chr3:48485446-48488566	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:48487133-48487359	K562	blood:	n/a	n/a
29	POLR2A	chr3:48485914-48488417	GM12878	blood:	n/a	n/a
30	POLR2A	chr3:48485851-48488721	HUVEC	blood vessel:	n/a	n/a
31	USF2	chr3:48487242-48487418	Hela-S3	cervix:	n/a	n/a
32	HCFC1	chr3:48487062-48488918	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr3:48487121-48487443	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:48485947-48488432	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48487347-48487397	GM12878	blood:	n/a
2	chr3:48487347-48487397	CMK	blood:	n/a
3	chr3:48487347-48487397	RPTEC	kidney:	n/a
4	chr3:48487347-48487397	K562	blood:	n/a
5	chr3:48487347-48487397	HRCEpiC	kidney:	n/a
6	chr3:48487347-48487397	AG04450	lung:	fetal
7	chr3:48487347-48487397	NB4	blood:	n/a
8	chr3:48487347-48487397	HIPEpiC	eye:	n/a
9	chr3:48487347-48487397	NH-A	brain:	n/a
10	chr3:48487347-48487397	BJ	skin:	n/a
11	chr3:48487347-48487397	NT2-D1	testis:	n/a
12	chr3:48487347-48487397	HCT-116	colon:	n/a
13	chr3:48487347-48487397	NHBE	bronchial:	n/a
14	chr3:48487347-48487397	HMEC	breast:	n/a
15	chr3:48487347-48487397	AG04449	skin:	fetal
16	chr3:48487347-48487397	HAEpiC	amniotic membrane:	n/a
17	chr3:48487347-48487397	A549	lung:	n/a
18	chr3:48487347-48487397	LNCaP	prostate:	n/a
19	chr3:48487347-48487397	HL-60	blood:	n/a
20	chr3:48487347-48487397	HEK293	kidney:	embryo
21	chr3:48487347-48487397	HEEpiC	esophagus:	n/a
22	chr3:48487347-48487397	NHDF-neo	bronchial:	n/a
23	chr3:48487347-48487397	AG09309	skin:	n/a
24	chr3:48487347-48487397	Caco-2	colon:	n/a
25	chr3:48487347-48487397	GM12891	blood:	n/a
26	chr3:48487347-48487397	HepG2	liver:	n/a
27	chr3:48487347-48487397	Hela-S3	cervix:	n/a
28	chr3:48487347-48487397	HNPCEpiC	eye:	n/a
29	chr3:48487347-48487397	T-47D	breast:	n/a
30	chr3:48487347-48487397	AoSMC	blood vessel:	n/a
31	chr3:48487347-48487397	HPAEpiC	pulmonary alveolar:	n/a
32	chr3:48487347-48487397	HCM	heart:	n/a
33	chr3:48487347-48487397	PANC-1	pancreas:	n/a
34	chr3:48487347-48487397	GM12892	blood:	n/a
35	chr3:48487347-48487397	IMR90	lung:	fetal
36	chr3:48487347-48487397	Hepatocyte	liver:	n/a
37	chr3:48487347-48487397	PrEC	prostate:	n/a
38	chr3:48487347-48487397	SAEC	small airway:	n/a
39	chr3:48487347-48487397	HUVEC	blood vessel:	n/a
40	chr3:48487347-48487397	SK-N-MC	brain:	n/a
41	chr3:48487347-48487397	MCF10A-Er-Src	breast:	n/a
42	chr3:48487347-48487397	SK-N-SH_RA	brain:	n/a
43	chr3:48487347-48487397	GM06990	blood:	n/a
44	chr3:48487347-48487397	MCF-7	breast:	n/a
45	chr3:48487347-48487397	U87	brain:	n/a
46	chr3:48487347-48487397	HCPEpiC	choroid plexus:	n/a
47	chr3:48487347-48487397	ovcar-3	ovarian:	n/a
48	chr3:48487347-48487397	HRE	kidney:	n/a
49	chr3:48487347-48487397	HRPEpiC	eye:	n/a
50	chr3:48487347-48487397	SK-N-SH	brain:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48469445..48473059-chr3:48486174..48489531,5	MCF-7	breast:
2	chr3:48485232..48487898-chr3:48541366..48542951,2	K562	blood:
3	chr3:48460976..48462671-chr3:48486369..48489165,2	MCF-7	breast:
4	chr3:48412970..48414853-chr3:48487087..48489637,2	K562	blood:
5	chr3:48477555..48484761-chr3:48484855..48490000,13	MCF-7	breast:
6	chr3:48468360..48471756-chr3:48485148..48489754,5	K562	blood:
7	chr3:48486835..48489928-chr3:48540255..48543800,6	MCF-7	breast:
8	chr3:48486334..48488063-chr3:48594171..48595954,2	MCF-7	breast:
9	chr3:48486933..48489526-chr3:48585390..48587565,2	MCF-7	breast:
10	chr3:48485967..48488247-chr3:48600373..48602900,2	MCF-7	breast:
11	chr3:48486214..48489756-chr3:48493754..48497547,4	K562	blood:
12	chr3:48484123..48488497-chr3:48591865..48597132,6	K562	blood:
13	chr3:48485548..48495296-chr3:48503776..48510303,13	MCF-7	breast:
14	chr3:48341768..48344382-chr3:48487005..48489358,2	K562	blood:
15	chr3:48486535..48489941-chr3:48491977..48496128,7	MCF-7	breast:
16	chr3:48341910..48343501-chr3:48486949..48488485,2	MCF-7	breast:
17	chr3:48487008..48490928-chr3:48507402..48510491,5	K562	blood:

No data

Variant related genes	Relation type
ATRIP	TF binding region
ATRIP	CpG island
ENSG00000164053	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000164050	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000213689	Chromatin interaction
ENSG00000164049	Chromatin interaction
ENSG00000114270	Chromatin interaction
ENSG00000145040	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000172113	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1037773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10470686	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1109227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130170	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11130171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11712561	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11797	0.92[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12487542	0.94[EUR][1000 genomes]
rs13069724	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13071337	0.95[EUR][1000 genomes]
rs13072012	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13076076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13091785	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13314659	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13324374	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1459242	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs1459249	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1459250	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563736	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1824363	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1870444	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975844	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2045554	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279077	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];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2362452	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs28824259	0.95[EUR][1000 genomes]
rs2885509	0.90[EUR][1000 genomes]
rs2885510	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs3214041	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34761139	0.95[EUR][1000 genomes]
rs35215722	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3774808	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];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4490383	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858793	0.90[EUR][1000 genomes]
rs4858795	0.84[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs4858817	0.90[EUR][1000 genomes]
rs4858819	0.90[JPT][hapmap]
rs60512868	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6442116	0.89[EUR][1000 genomes]
rs6442117	0.89[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.92[EUR][1000 genomes]
rs6442118	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6442119	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6442120	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6442123	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6442124	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6764415	0.86[EUR][1000 genomes]
rs6770470	0.94[EUR][1000 genomes]
rs6776700	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6779262	0.90[EUR][1000 genomes]
rs6784322	0.93[EUR][1000 genomes]
rs6784541	0.93[EUR][1000 genomes]
rs6794875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6796491	0.95[EUR][1000 genomes]
rs6800475	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6804774	0.95[EUR][1000 genomes]
rs6810060	0.94[EUR][1000 genomes]
rs7126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725309	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs725310	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs730566	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs73074358	0.94[EUR][1000 genomes]
rs734071	0.84[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs734072	0.81[AMR][1000 genomes]
rs7618883	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7630741	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7634377	0.93[EUR][1000 genomes]
rs7635522	0.94[EUR][1000 genomes]
rs7636044	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636782	0.92[EUR][1000 genomes]
rs7639743	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7651407	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs7653691	0.91[EUR][1000 genomes]
rs898225	1.00[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs922075	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9311423	0.93[EUR][1000 genomes]
rs9311424	0.93[EUR][1000 genomes]
rs9311428	0.84[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs9809843	0.95[EUR][1000 genomes]
rs9812647	1.00[CEU][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9815088	0.80[AMR][1000 genomes]
rs9815103	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9817615	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9826195	0.95[EUR][1000 genomes]
rs9826247	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9849509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9862575	0.95[EUR][1000 genomes]
rs9864371	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9864815	0.95[EUR][1000 genomes]
rs9875280	0.95[EUR][1000 genomes]
rs9876781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876891	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881491	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9883759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9883927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	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
2	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv876761	chr3:48464968-48496758	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs9838618	AMT	cis	cerebellum	SCAN
rs9838618	SBK1	trans	cerebellum	SCAN
rs9838618	AMT	cis	parietal	SCAN
rs9838618	ZNF589	cis	parietal	SCAN
rs9838618	CFLAR	cis	Liver	GTEx
rs9838618	SCOTIN	cis	multi-tissue	Pritchard
rs9838618	PLXNB1	cis	multi-tissue	Pritchard
rs9838618	NME6	cis	cerebellum	SCAN
rs9838618	RP11-24C3.2	cis	Muscle Skeletal	GTEx
rs9838618	DALRD3	cis	parietal	SCAN
rs9838618	ZNF589	cis	cerebellum	SCAN
rs9838618	ALAS1	cis	parietal	SCAN
rs9838618	TMA7	cis	Muscle Skeletal	GTEx
rs9838618	C3orf18	cis	cerebellum	SCAN
rs9838618	SHISA5	cis	lymphoblastoid	seeQTL
rs9838618	CXCR6	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48482600-48487400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:48482600-48487600	Weak transcription	Ovary	ovary
3	chr3:48483400-48487400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:48483400-48487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:48483600-48487400	Weak transcription	Psoas Muscle	Psoas
6	chr3:48483600-48487400	Weak transcription	Stomach Mucosa	stomach
7	chr3:48483800-48487400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:48484800-48487400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:48485200-48487400	Weak transcription	Right Ventricle	heart
10	chr3:48486000-48487400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:48486200-48487400	Weak transcription	Lung	lung
12	chr3:48486400-48487400	Weak transcription	Esophagus	oesophagus
13	chr3:48486400-48487600	Weak transcription	Aorta	Aorta
14	chr3:48486400-48488200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:48486800-48487400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:48486800-48487400	Enhancers	Primary B cells from cord blood	blood
17	chr3:48486800-48487400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:48486800-48487600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:48486800-48488600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:48486800-48488800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr3:48486800-48489000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:48486800-48489600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:48487000-48487400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:48487000-48487400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:48487000-48487400	Weak transcription	Brain Germinal Matrix	brain
26	chr3:48487000-48487400	Enhancers	Fetal Heart	heart
27	chr3:48487000-48487600	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:48487000-48487600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:48487000-48487600	Flanking Active TSS	HepG2	liver
30	chr3:48487000-48487600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr3:48487000-48487800	Flanking Active TSS	Dnd41	blood
32	chr3:48487000-48487800	Flanking Active TSS	Hela-S3	cervix
33	chr3:48487000-48487800	Flanking Active TSS	NHEK	skin
34	chr3:48487000-48488000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:48487200-48487400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:48487200-48487400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:48487200-48487400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:48487200-48487400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr3:48487200-48487400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:48487200-48487400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:48487200-48487400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr3:48487200-48487400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr3:48487200-48487400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:48487200-48487400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:48487200-48487400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr3:48487200-48487400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr3:48487200-48487400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:48487200-48487400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:48487200-48487400	Enhancers	Adipose Nuclei	Adipose
50	chr3:48487200-48487400	Enhancers	Liver	Liver

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