Variant report

Variant	rs13275864
Chromosome Location	chr8:11361261-11361262
allele	C/G
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: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11250140	1.00[ASN][1000 genomes]
rs11775149	1.00[ASN][1000 genomes]
rs11775150	1.00[ASN][1000 genomes]
rs11777273	1.00[ASN][1000 genomes]
rs11780851	1.00[ASN][1000 genomes]
rs12155745	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386974	1.00[ASN][1000 genomes]
rs13272061	1.00[ASN][1000 genomes]
rs1382567	1.00[ASN][1000 genomes]
rs1478890	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478898	1.00[ASN][1000 genomes]
rs1600250	1.00[ASN][1000 genomes]
rs1600252	1.00[ASN][1000 genomes]
rs17799486	1.00[ASN][1000 genomes]
rs2061830	1.00[ASN][1000 genomes]
rs2199690	1.00[ASN][1000 genomes]
rs2245250	1.00[ASN][1000 genomes]
rs2245357	1.00[ASN][1000 genomes]
rs2248315	1.00[ASN][1000 genomes]
rs2248316	1.00[ASN][1000 genomes]
rs2248325	1.00[ASN][1000 genomes]
rs2248909	0.83[AMR][1000 genomes]
rs2409784	0.84[EUR][1000 genomes]
rs2467520	1.00[ASN][1000 genomes]
rs2618434	1.00[ASN][1000 genomes]
rs2736342	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986297	1.00[ASN][1000 genomes]
rs4840567	1.00[ASN][1000 genomes]
rs4841569	1.00[ASN][1000 genomes]
rs55860742	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601599	1.00[ASN][1000 genomes]
rs7822109	1.00[ASN][1000 genomes]
rs7829381	1.00[ASN][1000 genomes]
rs978802	1.00[ASN][1000 genomes]
rs978803	1.00[ASN][1000 genomes]
rs978804	1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13275864	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs13275864	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs13275864	C8orf13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 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	chr8:11358000-11361400	Enhancers	Thymus	Thymus
6	chr8:11358000-11364200	Genic enhancers	Primary B cells from cord blood	blood
7	chr8:11358800-11361800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:11359200-11361600	Weak transcription	NHDF-Ad	bronchial
9	chr8:11359400-11363400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:11359400-11364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:11359600-11364800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:11359600-11365400	Weak transcription	NHEK	skin
13	chr8:11360200-11362200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:11360400-11361400	Genic enhancers	Spleen	Spleen
15	chr8:11360400-11361600	Enhancers	Primary T cells from cord blood	blood
16	chr8:11360400-11364000	Enhancers	Dnd41	blood
17	chr8:11360600-11361400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:11360600-11361400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
19	chr8:11360800-11361400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr8:11361000-11361800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:11361200-11361400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:11361200-11361400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:11361200-11361400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links