Variant report

Variant	rs11997260
Chromosome Location	chr8:67701833-67701834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67696595..67699423-chr8:67701052..67703162,2	MCF-7	breast:
2	chr8:67685299..67688068-chr8:67698672..67702160,3	MCF-7	breast:
3	chr8:67700946..67703504-chr8:67705342..67708129,2	MCF-7	breast:
4	chr8:67623764..67626301-chr8:67701281..67702863,2	MCF-7	breast:
5	chr8:67693005..67695249-chr8:67699704..67702616,2	K562	blood:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10504393	1.00[CEU][hapmap]
rs11985572	1.00[CEU][hapmap]
rs11986740	1.00[ASW][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11986831	1.00[CEU][hapmap]
rs11987311	1.00[CEU][hapmap]
rs11988213	1.00[CEU][hapmap]
rs11990322	1.00[CEU][hapmap]
rs11990461	1.00[CEU][hapmap]
rs11990636	1.00[CEU][hapmap]
rs11992252	1.00[CEU][hapmap]
rs11992605	1.00[CEU][hapmap]
rs11993354	1.00[CEU][hapmap]
rs11995256	1.00[CEU][hapmap]
rs11996861	1.00[CEU][hapmap]
rs11997510	1.00[ASW][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs16932996	1.00[CEU][hapmap]
rs16933013	1.00[CEU][hapmap]
rs16933026	1.00[CEU][hapmap]
rs16933032	1.00[CEU][hapmap]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933039	1.00[CEU][hapmap]
rs16933043	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16933057	1.00[CEU][hapmap]
rs16933060	1.00[CEU][hapmap]
rs16933065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16933079	1.00[CEU][hapmap]
rs16933080	1.00[CEU][hapmap]
rs16933092	1.00[CEU][hapmap]
rs16933094	1.00[CEU][hapmap]
rs16933097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs16933125	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16933138	1.00[CEU][hapmap]
rs2357998	1.00[CEU][hapmap]
rs28377622	1.00[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3779995	1.00[CEU][hapmap]
rs3808602	1.00[CEU][hapmap]
rs3824258	1.00[CEU][hapmap]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap]
rs4534119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55784133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56036237	0.95[AFR][1000 genomes]
rs56041142	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56100064	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56717011	0.85[EUR][1000 genomes]
rs58416462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58787759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60624770	1.00[ASN][1000 genomes]
rs60964596	1.00[ASN][1000 genomes]
rs61167401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61349439	0.91[AFR][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap]
rs6983632	1.00[CEU][hapmap]
rs6984447	1.00[CEU][hapmap]
rs6984650	1.00[CEU][hapmap]
rs6985273	1.00[CEU][hapmap]
rs6986940	1.00[CEU][hapmap]
rs6987665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6997204	0.91[AFR][1000 genomes]
rs6997393	0.95[AFR][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap]
rs6998777	1.00[CEU][hapmap]
rs7001834	1.00[ASW][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73691159	1.00[ASN][1000 genomes]
rs73691161	1.00[ASN][1000 genomes]
rs73691183	1.00[ASN][1000 genomes]
rs73691590	0.91[AFR][1000 genomes]
rs73691597	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820637	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7824775	1.00[CEU][hapmap]
rs7840192	1.00[CEU][hapmap]
rs979679	1.00[CEU][hapmap]

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	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67687800-67702600	Weak transcription	Spleen	Spleen
2	chr8:67688000-67713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:67688000-67783000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67688200-67703800	Weak transcription	Lung	lung
5	chr8:67688200-67738000	Weak transcription	HSMM	muscle
6	chr8:67688400-67703000	Weak transcription	Aorta	Aorta
7	chr8:67688400-67706600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:67688400-67730400	Weak transcription	HSMMtube	muscle
9	chr8:67688600-67707000	Weak transcription	Thymus	Thymus
10	chr8:67688800-67702800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:67688800-67706600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:67688800-67707000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:67688800-67707200	Weak transcription	Colonic Mucosa	Colon
14	chr8:67688800-67709800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:67689000-67782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:67689200-67707200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:67689600-67702800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:67689800-67709600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:67690000-67702400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:67690200-67706000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:67691600-67730600	Weak transcription	Fetal Stomach	stomach
22	chr8:67693800-67706800	Weak transcription	Fetal Thymus	thymus
23	chr8:67694200-67705600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:67695400-67721600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:67695800-67706800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:67696000-67703600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:67696400-67707000	Weak transcription	Left Ventricle	heart
28	chr8:67696400-67709600	Weak transcription	Ovary	ovary
29	chr8:67696600-67706600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:67696600-67706800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:67696600-67707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:67696600-67711000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:67696600-67711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:67696600-67711400	Weak transcription	Esophagus	oesophagus
35	chr8:67696600-67713200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:67696600-67713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:67696600-67718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:67696600-67721400	Weak transcription	HMEC	breast
39	chr8:67696600-67742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:67696600-67767200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:67696800-67705400	Weak transcription	GM12878-XiMat	blood
42	chr8:67696800-67708600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:67696800-67712800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:67696800-67718000	Weak transcription	NHEK	skin
45	chr8:67696800-67783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:67697400-67718400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:67697600-67702600	Weak transcription	Fetal Intestine Small	intestine
48	chr8:67697600-67703800	Weak transcription	Gastric	stomach
49	chr8:67697800-67702600	Weak transcription	HepG2	liver
50	chr8:67698000-67702600	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links