Variant report

Variant	rs11147638
Chromosome Location	chr13:37768206-37768207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10507446	0.90[ASN][1000 genomes]
rs1324026	0.90[ASN][1000 genomes]
rs1324027	0.90[ASN][1000 genomes]
rs1324028	0.90[ASN][1000 genomes]
rs1324031	0.90[ASN][1000 genomes]
rs1324032	0.88[ASN][1000 genomes]
rs1324033	0.88[ASN][1000 genomes]
rs1324035	0.87[ASN][1000 genomes]
rs1324036	0.88[ASN][1000 genomes]
rs1324037	0.88[ASN][1000 genomes]
rs1359212	0.81[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs1408229	0.90[ASN][1000 genomes]
rs17055062	0.89[EUR][1000 genomes]
rs17055165	0.88[ASN][1000 genomes]
rs17055167	0.88[ASN][1000 genomes]
rs17224133	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1853578	0.90[ASN][1000 genomes]
rs1853579	0.90[ASN][1000 genomes]
rs1853580	0.90[ASN][1000 genomes]
rs1924451	0.89[ASN][1000 genomes]
rs1998568	0.90[ASN][1000 genomes]
rs1998569	0.88[ASN][1000 genomes]
rs1998570	0.88[ASN][1000 genomes]
rs2057533	0.88[ASN][1000 genomes]
rs2137588	0.89[EUR][1000 genomes]
rs2137589	0.89[EUR][1000 genomes]
rs2147180	0.89[ASN][1000 genomes]
rs2147182	0.90[ASN][1000 genomes]
rs2181793	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2209243	0.90[ASN][1000 genomes]
rs2209244	0.90[ASN][1000 genomes]
rs2224849	0.90[ASN][1000 genomes]
rs2323441	0.90[ASN][1000 genomes]
rs2323445	0.90[ASN][1000 genomes]
rs4245381	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4245382	0.90[ASN][1000 genomes]
rs4341644	0.90[ASN][1000 genomes]
rs4359318	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4414353	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4943453	0.81[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4943455	0.90[ASN][1000 genomes]
rs4943456	0.90[ASN][1000 genomes]
rs4943457	0.90[ASN][1000 genomes]
rs4943459	0.88[ASN][1000 genomes]
rs4943460	0.88[ASN][1000 genomes]
rs6563520	0.90[ASN][1000 genomes]
rs8001122	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9315474	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9315477	0.88[ASN][1000 genomes]
rs9532010	1.00[ASN][1000 genomes]
rs9532011	1.00[ASN][1000 genomes]
rs9532019	0.88[ASN][1000 genomes]
rs9532021	0.88[ASN][1000 genomes]
rs9547741	1.00[ASN][1000 genomes]
rs9547742	1.00[ASN][1000 genomes]
rs9547747	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9547748	0.90[ASN][1000 genomes]
rs9547751	0.88[ASN][1000 genomes]
rs9566193	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9566194	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9566195	0.89[EUR][1000 genomes]
rs9566196	0.90[ASN][1000 genomes]
rs9566199	0.88[ASN][1000 genomes]
rs9576209	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576210	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576211	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576212	0.89[EUR][1000 genomes]
rs9576215	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576216	0.89[EUR][1000 genomes]
rs9576217	0.89[EUR][1000 genomes]
rs9576218	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576219	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576221	0.90[ASN][1000 genomes]
rs9576222	0.90[ASN][1000 genomes]
rs9576223	0.90[ASN][1000 genomes]
rs9576227	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11147638	PRKCH	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37766200-37769200	Enhancers	Fetal Lung	lung
2	chr13:37766400-37768800	Enhancers	Osteobl	bone
3	chr13:37766400-37769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:37766400-37772000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:37766600-37769800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:37766800-37769000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:37766800-37769600	Enhancers	NHDF-Ad	bronchial
8	chr13:37767000-37768600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:37767000-37768600	Enhancers	NHLF	lung
10	chr13:37767000-37769400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:37767000-37769400	Enhancers	HUVEC	blood vessel
12	chr13:37767000-37769600	Enhancers	HMEC	breast
13	chr13:37767000-37770000	Enhancers	NH-A	brain
14	chr13:37767400-37768400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:37767400-37768400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:37767400-37768400	Enhancers	NHEK	skin
17	chr13:37768000-37771800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:37768000-37772000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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