Variant report

Variant	rs12505587
Chromosome Location	chr4:167342766-167342767
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:167332041..167334748-chr4:167341372..167343978,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10019226	0.84[ASN][1000 genomes]
rs10030891	0.81[ASN][1000 genomes]
rs1011873	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10213117	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10517890	0.85[ASN][1000 genomes]
rs10517891	0.84[ASN][1000 genomes]
rs10517892	0.81[ASN][1000 genomes]
rs11100642	0.81[ASN][1000 genomes]
rs12502996	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12504155	0.86[ASN][1000 genomes]
rs12507273	0.94[ASN][1000 genomes]
rs12507611	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1352964	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1602681	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17634848	0.87[ASN][1000 genomes]
rs17691380	0.87[ASN][1000 genomes]
rs17691405	0.85[ASN][1000 genomes]
rs17695575	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28497438	0.81[ASN][1000 genomes]
rs28864214	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4147010	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4510432	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56755081	0.87[ASN][1000 genomes]
rs58332455	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61575174	0.80[ASN][1000 genomes]
rs6829268	0.89[ASN][1000 genomes]
rs72970292	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9996104	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034421	chr4:166961339-167893289	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv537339	chr4:166961339-167893289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032009	chr4:167154813-167403235	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880900	chr4:167155443-167368812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv880967	chr4:167185391-167366567	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv881405	chr4:167193885-167628013	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023051	chr4:167304814-168211540	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv537340	chr4:167304814-168211540	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1028788	chr4:167315021-167403235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167341200-167343200	Enhancers	Aorta	Aorta
2	chr4:167341600-167343400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:167341800-167343800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:167341800-167344400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:167341800-167346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:167342200-167345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:167342200-167345200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:167342200-167345200	Enhancers	Osteobl	bone
9	chr4:167342200-167346000	Enhancers	NH-A	brain
10	chr4:167342400-167343400	Enhancers	HSMM	muscle
11	chr4:167342400-167343400	Enhancers	HSMMtube	muscle
12	chr4:167342400-167345200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:167342600-167343400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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