Variant report

Variant	rs4638831
Chromosome Location	chr2:179043329-179043330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179036324..179039392-chr2:179042351..179044542,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs101266	0.88[JPT][hapmap]
rs10173229	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10197166	0.82[JPT][hapmap]
rs10930824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930826	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10930827	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11883528	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11886090	0.93[ASN][1000 genomes]
rs12185670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471750	0.97[AFR][1000 genomes]
rs12620314	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623701	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693153	0.84[AFR][1000 genomes]
rs13001608	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13004218	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13004565	0.92[ASN][1000 genomes]
rs13007977	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13390231	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1374257	0.91[ASN][1000 genomes]
rs147180	0.88[JPT][hapmap]
rs186736	0.82[JPT][hapmap]
rs1900251	0.90[ASN][1000 genomes]
rs2116544	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2366157	0.82[JPT][hapmap]
rs333992	0.81[JPT][hapmap]
rs333993	0.81[JPT][hapmap]
rs333997	0.88[JPT][hapmap]
rs334024	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs334028	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs334035	0.82[JPT][hapmap]
rs334037	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs334048	0.82[ASN][1000 genomes]
rs334051	0.91[ASN][1000 genomes]
rs34238455	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34477946	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35776135	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4893848	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4893999	0.94[ASN][1000 genomes]
rs4894000	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4894001	0.89[AFR][1000 genomes]
rs551368	0.88[JPT][hapmap]
rs62176039	0.91[ASN][1000 genomes]
rs6719178	0.82[JPT][hapmap]
rs7419749	0.90[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap]
rs7583174	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7591476	0.93[AFR][1000 genomes]
rs7596504	0.93[AFR][1000 genomes];0.94[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4638831	SP9	cis	cerebellum	SCAN
rs4638831	ATF2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179037000-179056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:179042200-179046800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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