Variant report

Variant	rs2279077
Chromosome Location	chr3:48474249-48474250
allele	A/G
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	CTCF	chr3:48474085-48475117	HCT-116	colon:	n/a	chr3:48474639-48474660 chr3:48474609-48474627 chr3:48474637-48474655 chr3:48474640-48474653
2	YY1	chr3:48474054-48474765	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr3:48474136-48474384	K562	blood:	n/a	n/a
4	FOS	chr3:48473942-48474302	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr3:48474135-48474514	K562	blood:	n/a	n/a
6	REST	chr3:48473913-48474361	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:48474225-48474341	MCF-7	breast:	n/a	n/a
8	CTCF	chr3:48474160-48474310	HPAF	blood vessel:	n/a	n/a
9	YY1	chr3:48473930-48474349	GM12892	blood:	n/a	n/a
10	RAD21	chr3:48474053-48474801	HepG2	liver:	n/a	chr3:48474610-48474629 chr3:48474638-48474657
11	CTCF	chr3:48474220-48474370	K562	blood:	n/a	n/a
12	CTCF	chr3:48474200-48474350	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr3:48474212-48474389	GM19240	blood:	n/a	n/a
14	FOS	chr3:48473911-48474302	MCF10A-Er-Src	breast:	n/a	n/a
15	SIN3A	chr3:48474132-48474439	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr3:48474235-48474338	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr3:48474180-48474330	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:48474220-48474370	HFF	foreskin:	n/a	n/a
19	CTCF	chr3:48474244-48474283	GM12892	blood:	n/a	n/a
20	RAD21	chr3:48474043-48474778	H1-hESC	embryonic stem cell:	n/a	chr3:48474610-48474629 chr3:48474638-48474657
21	CTCF	chr3:48474160-48474310	HVMF	connective:	n/a	n/a
22	CTCF	chr3:48474240-48474390	HRE	kidney:	n/a	n/a
23	CTCF	chr3:48474220-48474370	AG04449	skin:	n/a	n/a
24	CTCF	chr3:48474220-48474370	HRE	kidney:	n/a	n/a
25	CTCF	chr3:48474035-48474874	HCT-116	colon:	n/a	chr3:48474639-48474660 chr3:48474609-48474627 chr3:48474637-48474655 chr3:48474640-48474653
26	CTCF	chr3:48474153-48474413	HepG2	liver:	n/a	n/a
27	MAFK	chr3:48474185-48474444	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMC3	chr3:48474242-48474772	HepG2	liver:	n/a	chr3:48474636-48474643 chr3:48474639-48474653
29	CTCF	chr3:48474081-48474810	HepG2	liver:	n/a	chr3:48474639-48474660 chr3:48474609-48474627 chr3:48474637-48474655 chr3:48474640-48474653
30	STAT3	chr3:48473940-48474263	MCF10A-Er-Src	breast:	n/a	chr3:48474117-48474128
31	CTCF	chr3:48474140-48474290	GM12872	blood:	n/a	n/a
32	CTCF	chr3:48474220-48474370	HepG2	liver:	n/a	n/a
33	CTCF	chr3:48474200-48474350	AG04449	skin:	n/a	n/a
34	CTCF	chr3:48474180-48474330	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr3:48474171-48474677	K562	blood:	n/a	chr3:48474639-48474660 chr3:48474609-48474627 chr3:48474637-48474655 chr3:48474640-48474653
36	MYC	chr3:48473894-48474356	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr3:48474220-48474370	A549	lung:	n/a	n/a
38	TAF1	chr3:48474118-48474446	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr3:48474222-48474798	GM12878	blood:	n/a	chr3:48474639-48474660 chr3:48474609-48474627 chr3:48474637-48474655 chr3:48474640-48474653
40	RAD21	chr3:48474079-48474464	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOS	chr3:48473948-48474311	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr3:48474220-48474370	BE2_C	brain:	n/a	n/a
43	CTCF	chr3:48474180-48474330	NB4	blood:	n/a	n/a
44	CTCF	chr3:48474180-48474330	BJ	skin:	n/a	n/a
45	CTCF	chr3:48474120-48474270	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr3:48474200-48474350	HCM	heart:	n/a	n/a
47	CTCF	chr3:48474220-48474370	BJ	skin:	n/a	n/a
48	CTCF	chr3:48474200-48474350	HPF	lung:	n/a	n/a
49	CTCF	chr3:48474200-48474350	HAc	cerebellar:	n/a	n/a
50	CTCF	chr3:48474225-48474346	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48340975..48343990-chr3:48471746..48476834,5	MCF-7	breast:
2	chr3:48340105..48343012-chr3:48473949..48477283,3	MCF-7	breast:
3	chr3:48473857..48476193-chr3:48485455..48489090,4	MCF-7	breast:
4	chr3:48263892..48266561-chr3:48472281..48474384,2	MCF-7	breast:
5	chr3:48308151..48311606-chr3:48472406..48476834,4	MCF-7	breast:
6	chr3:48442075..48446343-chr3:48473380..48477493,6	MCF-7	breast:
7	chr3:48314953..48315704-chr3:48473997..48474750,2	MCF-7	breast:
8	chr3:48474232..48476372-chr3:48485734..48489595,3	MCF-7	breast:
9	chr3:48310196..48312132-chr3:48473711..48475286,2	MCF-7	breast:

Variant related genes	Relation type
PLXNB1	TF binding region
ENSG00000164053	Chromatin interaction
ENSG00000244380	Chromatin interaction
ENSG00000164047	Chromatin interaction
ENSG00000172113	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1037773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1109227	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];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11130170	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.82[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];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11712561	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[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];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12487542	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13069724	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13071337	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13072012	0.92[EUR][1000 genomes];0.95[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];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13091785	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13324374	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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];0.91[EUR][1000 genomes]
rs1459249	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1459250	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1824363	0.96[ASN][1000 genomes]
rs1870444	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975844	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2045554	0.95[EUR][1000 genomes];0.97[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];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2362450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362452	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs28824259	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2885509	0.92[EUR][1000 genomes]
rs2885510	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[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];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34761139	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35215722	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4490383	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858793	0.92[EUR][1000 genomes]
rs4858795	0.84[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs4858817	0.92[EUR][1000 genomes]
rs4858819	0.90[JPT][hapmap]
rs56298324	0.82[EUR][1000 genomes]
rs60512868	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6442116	0.91[EUR][1000 genomes]
rs6442117	0.89[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];0.94[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];0.98[EUR][1000 genomes];0.82[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];0.98[EUR][1000 genomes];0.82[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];0.93[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6442123	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442124	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6764415	0.84[EUR][1000 genomes]
rs6770470	0.96[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];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6779262	0.92[EUR][1000 genomes]
rs6784322	0.95[EUR][1000 genomes]
rs6784541	0.95[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];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6796491	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6800475	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6804774	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6810060	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7126	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs725309	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[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];0.92[EUR][1000 genomes]
rs730566	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs73074358	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs734071	0.84[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs7618883	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7630741	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7634377	0.95[EUR][1000 genomes]
rs7635522	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7636044	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7636782	0.94[EUR][1000 genomes]
rs7639743	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	0.93[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];0.91[EUR][1000 genomes]
rs922075	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9311423	0.95[EUR][1000 genomes]
rs9311424	0.95[EUR][1000 genomes]
rs9311428	0.84[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs9809843	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9812647	1.00[CEU][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.82[ASN][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];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9817615	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9826195	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9826247	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9838618	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]
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];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9862575	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9864371	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9864815	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9875280	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][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];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9876891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9881491	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9883759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2279077	RP11-24C3.2	cis	Muscle Skeletal	GTEx
rs2279077	AMT	cis	parietal	SCAN
rs2279077	AMT	cis	cerebellum	SCAN
rs2279077	CXCR6	cis	parietal	SCAN
rs2279077	DALRD3	cis	parietal	SCAN
rs2279077	NME6	cis	cerebellum	SCAN
rs2279077	TMA7	cis	Muscle Skeletal	GTEx
rs2279077	SBK1	trans	cerebellum	SCAN
rs2279077	SHISA5	cis	lymphoblastoid	seeQTL
rs2279077	ZNF589	cis	parietal	SCAN
rs2279077	ALAS1	cis	parietal	SCAN
rs2279077	ZNF589	cis	cerebellum	SCAN
rs2279077	C3orf18	cis	cerebellum	SCAN
rs2279077	TREX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48471800-48474600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr3:48471800-48476000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:48471800-48477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:48471800-48480800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:48472000-48474400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:48472000-48474600	Genic enhancers	Fetal Intestine Small	intestine
7	chr3:48472000-48474600	Weak transcription	NH-A	brain
8	chr3:48472000-48475800	Weak transcription	Small Intestine	intestine
9	chr3:48472000-48476800	Enhancers	Stomach Mucosa	stomach
10	chr3:48472000-48477200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:48472000-48477200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:48472000-48477400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:48472000-48477600	Weak transcription	HUVEC	blood vessel
14	chr3:48472000-48480600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:48472000-48481000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:48472200-48474600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:48472200-48475000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:48472200-48475600	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:48472200-48476400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:48472200-48476600	Strong transcription	Fetal Stomach	stomach
21	chr3:48472200-48477000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:48472200-48477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:48472200-48477600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:48472200-48478600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:48472400-48474400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:48472400-48474800	Weak transcription	Ovary	ovary
27	chr3:48472400-48475800	Weak transcription	Fetal Heart	heart
28	chr3:48472400-48476200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:48472400-48477000	Weak transcription	Brain Substantia Nigra	brain
30	chr3:48472400-48480200	Weak transcription	Right Atrium	heart
31	chr3:48472400-48480800	Weak transcription	Fetal Brain Male	brain
32	chr3:48472600-48474600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr3:48472600-48474600	Strong transcription	NHLF	lung
34	chr3:48472600-48476600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:48472600-48476800	Strong transcription	Primary T cells from cord blood	blood
36	chr3:48472800-48474800	Genic enhancers	Esophagus	oesophagus
37	chr3:48472800-48475000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:48472800-48475000	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:48472800-48476200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:48472800-48476200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:48472800-48476600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:48472800-48476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:48473000-48475000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:48473000-48475600	Strong transcription	Brain Hippocampus Middle	brain
45	chr3:48473000-48476200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:48473000-48476200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:48473000-48476200	Strong transcription	Dnd41	blood
48	chr3:48473000-48476400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr3:48473000-48476400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:48473000-48476400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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