Variant report

Variant	rs1995186
Chromosome Location	chr5:95678301-95678302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95675695..95678409-chr5:95678491..95680404,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10045787	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10063744	0.82[AMR][1000 genomes]
rs10476546	0.86[CEU][hapmap]
rs10866767	0.95[CEU][hapmap];0.87[CHB][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11135450	0.86[CEU][hapmap]
rs11135457	0.86[CEU][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs11741888	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11743265	0.86[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs11747615	0.92[EUR][1000 genomes]
rs11948972	0.90[CEU][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs11959068	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12659143	0.82[EUR][1000 genomes]
rs13178392	0.82[EUR][1000 genomes]
rs13181198	0.92[EUR][1000 genomes]
rs34023054	0.82[EUR][1000 genomes]
rs34713740	0.80[EUR][1000 genomes]
rs34973883	0.82[EUR][1000 genomes]
rs3792744	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs3811942	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3922467	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4424016	0.84[EUR][1000 genomes]
rs4529218	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs4637573	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs4869276	0.82[EUR][1000 genomes]
rs4869284	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7444135	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7710625	0.87[CEU][hapmap]
rs7730339	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1995186	ERAP2	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95672200-95687400	Enhancers	Hela-S3	cervix
2	chr5:95674800-95679800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:95674800-95681200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:95674800-95683200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:95674800-95686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:95675200-95679400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:95675600-95679600	Weak transcription	HepG2	liver
8	chr5:95676000-95678400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:95676400-95680400	Weak transcription	GM12878-XiMat	blood
10	chr5:95676400-95680800	Weak transcription	HUVEC	blood vessel
11	chr5:95676400-95683000	Weak transcription	HSMM	muscle
12	chr5:95676400-95683000	Weak transcription	Osteobl	bone
13	chr5:95676600-95679200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:95676800-95681000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:95676800-95681800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:95678000-95679400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:95678200-95679800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:95678200-95680600	Enhancers	Liver	Liver

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