Variant report

Variant	rs11176713
Chromosome Location	chr12:67784516-67784517
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1027588	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027589	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506544	0.94[JPT][hapmap]
rs1060350	0.94[JPT][hapmap]
rs1066404	0.94[JPT][hapmap]
rs10878601	0.88[JPT][hapmap]
rs10878607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878608	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878611	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1112445	0.94[JPT][hapmap]
rs11176683	0.94[JPT][hapmap]
rs11176700	0.94[JPT][hapmap]
rs11176714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176721	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125560	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1125748	0.82[ASN][1000 genomes]
rs1136080	0.94[JPT][hapmap]
rs1143954	0.94[JPT][hapmap]
rs1143956	0.94[JPT][hapmap]
rs1152877	0.94[JPT][hapmap]
rs1152895	0.94[JPT][hapmap]
rs1152896	0.94[JPT][hapmap];0.80[MEX][hapmap]
rs1152897	0.94[JPT][hapmap]
rs1152898	0.94[JPT][hapmap]
rs1152901	0.94[JPT][hapmap]
rs1152902	0.94[JPT][hapmap]
rs1161085	1.00[JPT][hapmap]
rs12424158	0.88[JPT][hapmap]
rs1252386	0.94[JPT][hapmap]
rs1252387	0.94[JPT][hapmap]
rs1252388	0.94[JPT][hapmap]
rs1252402	0.94[JPT][hapmap];0.80[MEX][hapmap]
rs1252405	0.94[JPT][hapmap]
rs1252407	0.94[JPT][hapmap]
rs1252424	0.94[JPT][hapmap]
rs12580790	0.94[JPT][hapmap]
rs1392587	0.94[JPT][hapmap]
rs1500434	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561333	0.81[ASN][1000 genomes]
rs1697233	0.94[JPT][hapmap]
rs1920435	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985476	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2028213	0.93[JPT][hapmap]
rs2118533	0.81[ASN][1000 genomes]
rs4913538	0.94[JPT][hapmap]
rs698123	0.94[JPT][hapmap]
rs710630	0.94[JPT][hapmap]
rs7135518	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7135979	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137238	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7297963	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7310455	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs775312	0.94[JPT][hapmap]
rs775645	0.94[JPT][hapmap];0.80[MEX][hapmap]
rs775651	0.94[JPT][hapmap]
rs775660	0.94[JPT][hapmap]
rs7958165	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7973565	0.94[JPT][hapmap]
rs7977430	0.94[JPT][hapmap]
rs811827	0.94[JPT][hapmap]

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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11176713	RASSF3	cis	cerebellum	SCAN
rs11176713	TCAP	trans	cerebellum	SCAN
rs11176713	GRIP1	cis	cerebellum	SCAN
rs11176713	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67782600-67788400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:67782800-67787600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:67782800-67787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67783000-67785000	Weak transcription	HSMMtube	muscle
5	chr12:67783000-67786600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:67783000-67788000	Weak transcription	NHEK	skin
7	chr12:67783200-67788200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:67783400-67788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:67784000-67784800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:67784000-67785800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:67784200-67784600	Enhancers	Fetal Kidney	kidney
12	chr12:67784200-67785200	Enhancers	Adipose Nuclei	Adipose
13	chr12:67784400-67784600	Enhancers	Fetal Intestine Small	intestine
14	chr12:67784400-67784800	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:67784400-67786000	Enhancers	Fetal Intestine Large	intestine
16	chr12:67784400-67786000	Enhancers	Psoas Muscle	Psoas

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