Variant report

Variant	rs2736350
Chromosome Location	chr8:11361552-11361553
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1585729	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1600249	0.87[ASN][1000 genomes]
rs2409781	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2618467	0.83[ASN][1000 genomes]
rs2618471	0.87[ASN][1000 genomes]
rs2736346	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2736347	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2898281	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2736350	BLK	cis	multi-tissue	Pritchard
rs2736350	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs2736350	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs2736350	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11353400-11367200	Enhancers	Fetal Thymus	thymus
2	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr8:11357800-11363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:11357800-11366600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:11358000-11364200	Genic enhancers	Primary B cells from cord blood	blood
6	chr8:11358800-11361800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:11359200-11361600	Weak transcription	NHDF-Ad	bronchial
8	chr8:11359400-11363400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:11359400-11364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:11359600-11364800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:11359600-11365400	Weak transcription	NHEK	skin
12	chr8:11360200-11362200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:11360400-11361600	Enhancers	Primary T cells from cord blood	blood
14	chr8:11360400-11364000	Enhancers	Dnd41	blood
15	chr8:11361000-11361800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:11361400-11363000	Genic enhancers	GM12878-XiMat	blood
17	chr8:11361400-11364400	Weak transcription	Spleen	Spleen

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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