Variant report

Variant	rs2220243
Chromosome Location	chr3:85134914-85134915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1013839	0.91[CHB][hapmap]
rs10433523	0.85[EUR][1000 genomes]
rs11127873	0.85[EUR][1000 genomes]
rs11127877	0.82[EUR][1000 genomes]
rs13072305	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1376934	0.91[CHB][hapmap]
rs1452117	0.91[CHB][hapmap]
rs1452120	0.91[CHB][hapmap]
rs1452121	0.91[CHB][hapmap]
rs1452125	0.81[ASN][1000 genomes]
rs1994315	0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2062431	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2123162	0.90[CHB][hapmap]
rs2167604	0.91[CHB][hapmap]
rs2200461	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2200464	0.82[EUR][1000 genomes]
rs2326126	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2326128	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4410457	0.85[EUR][1000 genomes]
rs4499618	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4856268	0.80[ASN][1000 genomes]
rs4856559	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4856560	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62250629	0.80[EUR][1000 genomes]
rs6549009	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6549011	0.85[EUR][1000 genomes]
rs6549012	0.85[EUR][1000 genomes]
rs6765011	0.85[EUR][1000 genomes]
rs6768559	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6775464	0.80[EUR][1000 genomes]
rs6790864	0.85[EUR][1000 genomes]
rs6794614	0.91[CHB][hapmap]
rs6796393	0.85[EUR][1000 genomes]
rs6798922	0.81[EUR][1000 genomes]
rs7636138	0.86[EUR][1000 genomes]
rs7645952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7647649	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs765461	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9309970	0.80[EUR][1000 genomes]
rs9682566	0.91[CHB][hapmap]
rs9814390	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9814835	0.85[EUR][1000 genomes]
rs9820587	0.86[EUR][1000 genomes]
rs9855054	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9857682	0.81[ASN][1000 genomes]
rs986132	0.91[CHB][hapmap]
rs9869902	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002058	chr3:84757044-85389876	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3419993	chr3:85030343-85663403	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv492289	chr3:85066623-85319147	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2753915	chr3:85071410-85624810	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv877093	chr3:85101501-85194054	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590897	chr3:85122624-85187085	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv877094	chr3:85124697-85253981	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85131000-85135800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:85131200-85136400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:85131800-85135800	Weak transcription	Fetal Brain Male	brain
4	chr3:85132000-85136000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:85132000-85136200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:85132000-85137000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:85132000-85137400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:85132000-85140400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:85132000-85141600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:85132200-85136400	Weak transcription	Brain Anterior Caudate	brain
11	chr3:85133800-85136200	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:85133800-85136200	Weak transcription	Brain Substantia Nigra	brain

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