Variant report

Variant	rs313735
Chromosome Location	chr1:86262203-86262204
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs186376	0.83[CEU][hapmap]
rs193398	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1977331	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs313710	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs313712	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs313715	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs313731	0.81[CEU][hapmap]
rs313732	0.85[CHB][hapmap]
rs313733	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313734	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs313758	0.83[CEU][hapmap]
rs313759	0.85[CEU][hapmap]
rs366187	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs380654	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs412328	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs432168	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs449901	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs486417	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598104	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs673506	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86257200-86263000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:86257200-86274000	Weak transcription	Fetal Lung	lung
3	chr1:86257400-86262800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86257400-86266800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:86257600-86263000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:86261800-86264200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links