Variant report

Variant	rs7832431
Chromosome Location	chr8:9947661-9947662
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11249968	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11249969	0.91[CEU][hapmap];0.83[CHB][hapmap];0.80[MKK][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.88[EUR][1000 genomes]
rs11249970	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1160369	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs11785434	0.81[ASW][hapmap];0.95[CEU][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12155541	0.86[EUR][1000 genomes]
rs12542030	0.83[CEU][hapmap]
rs12545826	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12550614	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12679328	0.87[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs12680389	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs13249013	0.83[CHB][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap]
rs13250499	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13261836	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13272793	0.94[YRI][hapmap]
rs13279619	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279701	0.94[YRI][hapmap]
rs1484641	1.00[YRI][hapmap]
rs1564808	0.91[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs17690549	0.94[YRI][hapmap]
rs17746227	0.94[YRI][hapmap]
rs17747335	0.94[YRI][hapmap]
rs2409632	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2628138	0.83[EUR][1000 genomes]
rs2898242	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs3735823	0.91[CEU][hapmap];0.83[CHB][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4840462	0.87[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs4840463	0.86[CEU][hapmap]
rs4841277	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841279	0.95[CEU][hapmap];0.81[JPT][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs625218	0.81[JPT][hapmap]
rs685218	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs6981546	0.87[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6983566	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs6985941	0.88[YRI][hapmap]
rs6988046	0.82[ASN][1000 genomes]
rs6997865	0.87[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap]
rs7008407	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs7012221	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs814422	0.83[CHB][hapmap]
rs814427	0.82[ASN][1000 genomes]
rs9329215	0.84[CEU][hapmap];0.82[CHB][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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7832431	CDHR1	trans	cerebellum	SCAN
rs7832431	MSRA	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9940000-9949400	Weak transcription	Spleen	Spleen
2	chr8:9940200-9948600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:9944200-9947800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:9945200-9947800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:9945200-9950000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:9946800-9948200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:9947000-9947800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:9947000-9948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:9947000-9948000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:9947000-9948000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:9947000-9948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:9947000-9948200	Enhancers	NH-A	brain
13	chr8:9947000-9948200	Enhancers	NHEK	skin
14	chr8:9947000-9948400	Enhancers	HMEC	breast
15	chr8:9947200-9947800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:9947200-9947800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:9947200-9947800	Enhancers	Aorta	Aorta
18	chr8:9947200-9947800	Enhancers	Left Ventricle	heart
19	chr8:9947200-9948000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:9947200-9948000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:9947200-9948000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:9947200-9948000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:9947200-9948000	Enhancers	HSMM	muscle
24	chr8:9947200-9948200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:9947200-9948200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:9947200-9948200	Enhancers	NHDF-Ad	bronchial
27	chr8:9947200-9948600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:9947400-9947800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:9947400-9947800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:9947400-9947800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:9947400-9947800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:9947400-9948000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:9947600-9947800	Flanking Active TSS	Osteobl	bone

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