Variant report

Variant	rs725594
Chromosome Location	chr4:20664321-20664322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10017693	1.00[CHB][hapmap]
rs10022322	1.00[CHB][hapmap]
rs10024002	1.00[CHB][hapmap]
rs10938801	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11932551	0.91[ASN][1000 genomes]
rs12640448	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs12641186	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs12645674	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16869851	0.89[ASN][1000 genomes]
rs17551335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17621796	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17622163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052775	1.00[CHB][hapmap]
rs2162413	0.86[CEU][hapmap]
rs2288308	1.00[CHB][hapmap]
rs28374411	0.97[ASN][1000 genomes]
rs3764967	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs55794413	0.89[ASN][1000 genomes]
rs55874299	0.89[ASN][1000 genomes]
rs56152829	0.89[ASN][1000 genomes]
rs56237079	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61790748	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62410065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62410092	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62410099	0.89[ASN][1000 genomes]
rs6811505	0.89[CHB][hapmap]
rs755155	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655154	1.00[CHB][hapmap]
rs7681691	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs9995697	1.00[CHB][hapmap]

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	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases
2	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20654600-20673800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:20660000-20674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:20663800-20665000	Enhancers	Hela-S3	cervix
4	chr4:20663800-20665000	Enhancers	HMEC	breast
5	chr4:20663800-20665000	Enhancers	NHEK	skin
6	chr4:20663800-20665400	Enhancers	HUVEC	blood vessel
7	chr4:20664000-20664400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
8	chr4:20664000-20664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:20664000-20665000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:20664000-20665000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:20664200-20664600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:20664200-20665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:20664200-20665000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links