Variant report

Variant	rs1021457
Chromosome Location	chr8:86369274-86369275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1021458	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777530	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780942	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265202	1.00[ASN][1000 genomes]
rs13274009	1.00[ASN][1000 genomes]
rs1389246	1.00[ASN][1000 genomes]
rs1472200	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493301	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741410	1.00[ASN][1000 genomes]
rs17814075	1.00[ASN][1000 genomes]
rs17814183	1.00[ASN][1000 genomes]
rs17814255	1.00[ASN][1000 genomes]
rs17814594	1.00[ASN][1000 genomes]
rs1979694	1.00[ASN][1000 genomes]
rs2101706	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466764	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645050	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2725292	0.84[CEU][hapmap];0.84[GIH][hapmap]
rs2725295	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2725296	0.84[CEU][hapmap]
rs359523	1.00[ASN][1000 genomes]
rs359526	1.00[ASN][1000 genomes]
rs359530	1.00[ASN][1000 genomes]
rs359536	1.00[ASN][1000 genomes]
rs36054079	1.00[ASN][1000 genomes]
rs370167	1.00[ASN][1000 genomes]
rs384656	1.00[ASN][1000 genomes]
rs385064	1.00[ASN][1000 genomes]
rs393828	1.00[ASN][1000 genomes]
rs395964	1.00[ASN][1000 genomes]
rs404123	1.00[ASN][1000 genomes]
rs406858	1.00[ASN][1000 genomes]
rs407320	1.00[ASN][1000 genomes]
rs411276	1.00[ASN][1000 genomes]
rs413449	1.00[ASN][1000 genomes]
rs414354	1.00[ASN][1000 genomes]
rs414922	1.00[ASN][1000 genomes]
rs415199	1.00[ASN][1000 genomes]
rs422914	1.00[ASN][1000 genomes]
rs427285	1.00[ASN][1000 genomes]
rs435449	0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs438730	1.00[ASN][1000 genomes]
rs443177	1.00[ASN][1000 genomes]
rs447131	1.00[ASN][1000 genomes]
rs4740052	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698727	1.00[ASN][1000 genomes]
rs62512497	1.00[ASN][1000 genomes]
rs62512498	1.00[ASN][1000 genomes]
rs62527221	1.00[ASN][1000 genomes]
rs62527224	1.00[ASN][1000 genomes]
rs650498	1.00[ASN][1000 genomes]
rs6605618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6605621	1.00[ASN][1000 genomes]
rs663323	1.00[ASN][1000 genomes]
rs6984702	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990339	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994366	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999266	1.00[ASN][1000 genomes]
rs7817747	1.00[ASN][1000 genomes]
rs7823943	1.00[ASN][1000 genomes]
rs7844166	1.00[ASN][1000 genomes]
rs981495	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86351200-86374000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:86354400-86375400	Weak transcription	Psoas Muscle	Psoas
3	chr8:86358400-86375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:86365200-86373200	Weak transcription	Liver	Liver
5	chr8:86366600-86375000	Weak transcription	HMEC	breast
6	chr8:86366600-86375200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:86366800-86369400	Weak transcription	Brain Anterior Caudate	brain
8	chr8:86366800-86375200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:86366800-86375200	Weak transcription	NHEK	skin
10	chr8:86367400-86372800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:86367600-86375600	Weak transcription	Gastric	stomach
12	chr8:86368200-86369800	Enhancers	Brain Hippocampus Middle	brain
13	chr8:86368400-86375400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:86368600-86374000	Weak transcription	Adipose Nuclei	Adipose
15	chr8:86368600-86374000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:86368600-86374000	Weak transcription	Brain Substantia Nigra	brain
17	chr8:86368600-86375600	Weak transcription	Esophagus	oesophagus
18	chr8:86369000-86373400	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:86369200-86369600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr8:86369200-86369800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr8:86369200-86370200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:86369200-86375400	Enhancers	Primary B cells from cord blood	blood

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