Variant report

Variant	rs2409781
Chromosome Location	chr8:11359557-11359558
allele	C/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: 4 )

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

rs_ID	r²[population]
rs12674768	0.81[CHB][hapmap]
rs13277113	0.81[CHB][hapmap]
rs1478901	0.81[CHB][hapmap]
rs1585729	0.87[ASN][1000 genomes]
rs1600249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2252729	0.80[CHB][hapmap]
rs2280805	0.94[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2618457	0.81[CHB][hapmap]
rs2618471	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618476	0.93[CHB][hapmap]
rs2618481	0.81[CHB][hapmap]
rs2736345	0.80[CHB][hapmap]
rs2736346	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736347	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736350	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2736353	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs2736354	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs2736355	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs2898281	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4840568	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs6993775	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs998683	0.81[CHB][hapmap]

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
rs2409781	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs2409781	C8orf13	cis	multi-tissue	Pritchard
rs2409781	BLK	cis	multi-tissue	Pritchard
rs2409781	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11352200-11360400	Weak transcription	Spleen	Spleen
2	chr8:11353200-11361000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:11353400-11367200	Enhancers	Fetal Thymus	thymus
4	chr8:11356800-11361200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr8:11357800-11363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:11357800-11366600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:11358000-11361400	Enhancers	Thymus	Thymus
9	chr8:11358000-11364200	Genic enhancers	Primary B cells from cord blood	blood
10	chr8:11358800-11359600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:11358800-11359600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:11358800-11359600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:11358800-11360000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:11358800-11360200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:11358800-11360400	Flanking Active TSS	Dnd41	blood
16	chr8:11358800-11361800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr8:11359000-11359600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:11359000-11359600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:11359000-11359600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:11359000-11359600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:11359000-11359800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr8:11359000-11360200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr8:11359200-11359600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:11359200-11359600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:11359200-11359600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr8:11359200-11359600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:11359200-11359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:11359200-11359600	Enhancers	NHEK	skin
29	chr8:11359200-11361600	Weak transcription	NHDF-Ad	bronchial
30	chr8:11359400-11363400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:11359400-11364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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