Variant report

Variant	rs12130590
Chromosome Location	chr1:77736662-77736663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11162307	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584919	1.00[CHB][hapmap]
rs11590456	1.00[CHB][hapmap]
rs1167202	1.00[CHB][hapmap]
rs1167212	1.00[CHB][hapmap]
rs12119637	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124822	1.00[CHB][hapmap]
rs12125503	1.00[CHB][hapmap]
rs12126117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128049	1.00[CHB][hapmap]
rs12132273	1.00[CHB][hapmap]
rs12132703	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133976	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135530	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135843	1.00[CHB][hapmap]
rs12136415	1.00[CHB][hapmap]
rs12141929	1.00[CHB][hapmap]
rs1377737	1.00[CHB][hapmap]
rs1453981	1.00[CHB][hapmap]
rs17098287	1.00[CHB][hapmap]
rs17100458	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17100463	1.00[CHB][hapmap]
rs17100476	1.00[CHB][hapmap]
rs4949652	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949786	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949788	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4949794	1.00[CHB][hapmap]
rs4949801	1.00[ASN][1000 genomes]
rs72679521	1.00[ASN][1000 genomes]
rs72683952	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546963	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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	nsv432398	chr1:77707391-77740836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77736400-77740600	Enhancers	NHDF-Ad	bronchial
2	chr1:77736600-77738400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links