Variant report

Variant	rs12538655
Chromosome Location	chr7:80762899-80762900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80762464..80764120-chr7:80767823..80770291,2	K562	blood:
2	chr7:80762464..80764169-chr7:80767281..80770291,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10234328	0.82[EUR][1000 genomes]
rs10239474	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10247169	0.93[EUR][1000 genomes]
rs10265624	0.91[EUR][1000 genomes]
rs10277023	0.86[EUR][1000 genomes]
rs10277984	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12540085	0.81[EUR][1000 genomes]
rs12668893	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1528736	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1919369	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2697219	0.86[EUR][1000 genomes]
rs2697222	0.92[EUR][1000 genomes]
rs2697943	0.93[EUR][1000 genomes]
rs2697944	0.92[EUR][1000 genomes]
rs2697945	0.92[EUR][1000 genomes]
rs2697946	0.92[EUR][1000 genomes]
rs28715268	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28796047	0.83[EUR][1000 genomes]
rs34344876	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35758038	0.82[EUR][1000 genomes]
rs35876610	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3843546	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3891957	0.82[EUR][1000 genomes]
rs3891958	0.82[EUR][1000 genomes]
rs4732106	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4732107	0.82[EUR][1000 genomes]
rs4732109	0.81[EUR][1000 genomes]
rs58692795	0.82[EUR][1000 genomes]
rs61059308	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62467389	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6467574	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67243095	0.84[EUR][1000 genomes]
rs73384423	0.82[EUR][1000 genomes]
rs7786639	0.82[EUR][1000 genomes]
rs7790887	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs949733	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs953190	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs953191	0.82[EUR][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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv888553	chr7:80683308-80766407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv888555	chr7:80695828-80766407	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv888556	chr7:80695828-80797794	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80762600-80763200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80762800-80763200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:80762800-80763200	Enhancers	HMEC	breast

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