Variant report

Variant	rs4612931
Chromosome Location	chr13:94424196-94424197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12584151	0.89[CHB][hapmap];0.93[CHD][hapmap];0.92[MEX][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12585404	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1316766	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1316793	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60759031	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72643188	0.89[EUR][1000 genomes]
rs7319499	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9301901	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9556318	0.81[EUR][1000 genomes]
rs9556322	0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9556323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9561428	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs9561432	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9561435	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9561436	0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9561439	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9561440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9561441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9561454	0.81[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	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1130	chr13:94410849-94455628	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94416600-94429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94420600-94424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:94420600-94429000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:94420800-94427600	Weak transcription	A549	lung
5	chr13:94421400-94428000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:94421800-94424400	Enhancers	Fetal Intestine Small	intestine
7	chr13:94423200-94424200	Weak transcription	Fetal Intestine Large	intestine
8	chr13:94423200-94424600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:94423200-94424600	Enhancers	Osteobl	bone
10	chr13:94423200-94427400	Weak transcription	HepG2	liver
11	chr13:94423400-94424400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:94423400-94424400	Enhancers	HSMM	muscle
13	chr13:94423400-94424800	Enhancers	Liver	Liver
14	chr13:94423600-94429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:94423600-94429000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:94423600-94430000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr13:94423800-94424600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:94423800-94427600	Weak transcription	Fetal Stomach	stomach
19	chr13:94423800-94429000	Weak transcription	Ovary	ovary
20	chr13:94424000-94424400	Weak transcription	NH-A	brain

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