Variant report

Variant	rs7814834
Chromosome Location	chr8:11387861-11387862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10903339	0.89[ASN][1000 genomes]
rs11250141	0.94[JPT][hapmap]
rs11250142	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11250143	0.87[ASN][1000 genomes]
rs11250144	0.83[CHB][hapmap]
rs11990277	0.94[JPT][hapmap]
rs11991127	0.86[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs12674768	0.89[JPT][hapmap]
rs12677903	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs1382566	0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1478897	0.87[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17153385	0.82[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs17153419	0.83[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap]
rs2021819	0.96[ASN][1000 genomes]
rs2248696	0.90[ASN][1000 genomes]
rs2248700	0.90[ASN][1000 genomes]
rs2248932	0.89[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2249259	0.88[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2618435	0.95[ASN][1000 genomes]
rs2618437	0.95[ASN][1000 genomes]
rs2618455	0.81[ASN][1000 genomes]
rs2618456	0.82[ASN][1000 genomes]
rs2729934	0.96[ASN][1000 genomes]
rs2729935	0.94[ASN][1000 genomes]
rs2736356	0.82[ASN][1000 genomes]
rs2736359	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2736360	0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2898282	0.94[ASN][1000 genomes]
rs35451117	0.89[ASN][1000 genomes]
rs4366049	0.86[ASN][1000 genomes]
rs4841550	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57240873	0.93[ASN][1000 genomes]
rs58373594	0.93[ASN][1000 genomes]
rs62489135	0.90[ASN][1000 genomes]
rs62489136	0.86[ASN][1000 genomes]
rs62489137	0.89[ASN][1000 genomes]
rs62489140	0.81[ASN][1000 genomes]
rs6981617	0.88[ASN][1000 genomes]
rs7004267	0.86[ASN][1000 genomes]
rs7014565	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs73209286	0.86[ASN][1000 genomes]
rs73209290	0.96[ASN][1000 genomes]
rs7828916	0.85[ASN][1000 genomes]
rs7844858	0.95[ASN][1000 genomes]
rs9329246	0.89[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9657551	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7814834	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs7814834	FAM167A	cis	lymphoblastoid	seeQTL
rs7814834	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11384400-11388000	ZNF genes & repeats	GM12878-XiMat	blood
3	chr8:11385400-11388600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr8:11385800-11388600	ZNF genes & repeats	Primary B cells from cord blood	blood
5	chr8:11386400-11390600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:11386600-11390400	Weak transcription	Fetal Thymus	thymus
7	chr8:11387200-11388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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