Variant report

Variant	rs2236902
Chromosome Location	chr1:209881045-209881046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209879551..209882258-chr1:209882693..209884984,3	K562	blood:
2	chr1:209873397..209875484-chr1:209878580..209881106,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10082248	1.00[CEU][hapmap]
rs11119345	0.85[EUR][1000 genomes]
rs12058100	0.85[EUR][1000 genomes]
rs12561766	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17015076	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17015078	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2038053	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2076149	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076151	0.86[AMR][1000 genomes]
rs2142860	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2235370	1.00[EUR][1000 genomes]
rs2272866	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282740	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2294406	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2298930	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4329516	1.00[CEU][hapmap]
rs4545339	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4844488	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4844491	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844893	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844894	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56822893	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57283682	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58788672	0.83[EUR][1000 genomes]
rs6540547	1.00[CEU][hapmap]
rs6694238	1.00[CEU][hapmap]
rs7515014	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7517461	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7528642	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7532021	0.85[EUR][1000 genomes]
rs846908	1.00[CEU][hapmap]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1004343	chr1:209879304-209909385	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 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	chr1:209875200-209882400	Enhancers	Brain Substantia Nigra	brain
2	chr1:209877400-209882600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:209878400-209881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:209878600-209881200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:209878600-209881400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:209878600-209888200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:209878800-209893400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:209879000-209881400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:209880000-209881200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:209880000-209881400	Enhancers	HMEC	breast
11	chr1:209880200-209881400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:209880200-209881400	Enhancers	NHEK	skin
13	chr1:209880200-209881800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:209880600-209881200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:209880600-209883800	Genic enhancers	Liver	Liver
16	chr1:209880800-209882200	Enhancers	Brain Germinal Matrix	brain
17	chr1:209880800-209882400	Enhancers	Brain Hippocampus Middle	brain
18	chr1:209881000-209883200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:209881000-209885200	Weak transcription	HUVEC	blood vessel

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