Variant report

Variant	rs1987259
Chromosome Location	chr8:34879934-34879935
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10086170	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10090404	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10093451	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10103839	0.94[ASN][1000 genomes]
rs10105027	0.87[ASN][1000 genomes]
rs10106900	0.95[ASN][1000 genomes]
rs10110471	0.88[ASN][1000 genomes]
rs10503971	0.96[ASN][1000 genomes]
rs10755891	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10755892	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10954972	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11989408	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11992561	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11995706	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12541698	0.88[ASN][1000 genomes]
rs12542358	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543865	0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs12544302	0.86[ASN][1000 genomes]
rs12544746	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12546149	0.94[ASN][1000 genomes]
rs12548710	0.95[ASN][1000 genomes]
rs12549310	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13439850	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16883300	0.95[ASN][1000 genomes]
rs16883302	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16883372	0.96[ASN][1000 genomes]
rs16883443	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28575744	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28693643	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4237081	0.99[ASN][1000 genomes]
rs4313151	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4361759	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4368975	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4422767	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4445222	0.81[TSI][hapmap]
rs4474016	0.95[ASN][1000 genomes]
rs4474017	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4484690	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4487759	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4503095	0.92[ASN][1000 genomes]
rs4513972	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4520153	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4521752	0.94[ASN][1000 genomes]
rs4551351	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4557701	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4590438	0.96[ASN][1000 genomes]
rs4604426	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4607607	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4631463	0.93[ASN][1000 genomes]
rs4636203	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4739292	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4739378	0.82[ASN][1000 genomes]
rs4739383	0.95[ASN][1000 genomes]
rs4739384	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4739385	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4739386	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4739387	0.96[ASN][1000 genomes]
rs55780858	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56065315	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56238024	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57260519	0.97[ASN][1000 genomes]
rs58253719	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58943573	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59565914	0.96[ASN][1000 genomes]
rs59781721	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60954213	0.93[ASN][1000 genomes]
rs61144179	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6468297	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6468298	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6468299	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6468300	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6982801	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983798	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6985526	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989491	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994259	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6995319	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996639	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6998588	0.97[ASN][1000 genomes]
rs7000626	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7002561	0.96[ASN][1000 genomes]
rs7005848	0.95[ASN][1000 genomes]
rs7009820	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7014169	0.93[ASN][1000 genomes]
rs73671417	0.96[ASN][1000 genomes]
rs73671420	0.96[ASN][1000 genomes]
rs7819172	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7819315	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7819466	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820772	0.96[ASN][1000 genomes]
rs7821357	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7831249	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7831645	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7832238	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7841333	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9656770	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34879600-34880600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:34879600-34880800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:34879600-34881000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:34879600-34881200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:34879600-34881600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:34879600-34881600	Enhancers	Hela-S3	cervix
7	chr8:34879600-34882000	Enhancers	HMEC	breast
8	chr8:34879800-34880200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:34879800-34880200	Enhancers	A549	lung
10	chr8:34879800-34880800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:34879800-34880800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:34879800-34881000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:34879800-34881200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:34879800-34881200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:34879800-34881200	Enhancers	HUVEC	blood vessel
16	chr8:34879800-34881400	Enhancers	NHEK	skin
17	chr8:34879800-34881600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:34879800-34881600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:34879800-34881600	Enhancers	NH-A	brain

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