Variant report

Variant	rs2280805
Chromosome Location	chr8:11363784-11363785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11358894..11362536-chr8:11363129..11366232,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11250141	0.80[ASN][1000 genomes]
rs11250144	0.84[AMR][1000 genomes]
rs11990277	0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12674768	0.88[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12677843	0.83[AMR][1000 genomes]
rs12677903	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1600249	0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2252729	0.87[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2409781	0.94[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2618457	0.88[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2618458	0.81[ASN][1000 genomes]
rs2618471	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2618476	0.87[CHB][hapmap];0.84[AMR][1000 genomes]
rs2736346	0.84[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2736347	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2736353	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs2736354	0.88[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2736355	0.88[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2898281	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4841546	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6993775	0.88[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs998683	0.84[AMR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2280805	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs2280805	BLK	cis	multi-tissue	Pritchard
rs2280805	C8orf13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 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	chr8:11357800-11366600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:11358000-11364200	Genic enhancers	Primary B cells from cord blood	blood
5	chr8:11359400-11364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:11359600-11364800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:11359600-11365400	Weak transcription	NHEK	skin
8	chr8:11360400-11364000	Enhancers	Dnd41	blood
9	chr8:11361400-11364400	Weak transcription	Spleen	Spleen
10	chr8:11363200-11364800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:11363400-11364600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:11363400-11364800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:11363400-11366200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:11363600-11364800	Flanking Active TSS	GM12878-XiMat	blood

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