Variant report

Variant	rs13256690
Chromosome Location	chr8:11338568-11338569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1478895	0.91[ASN][1000 genomes]
rs1478900	0.86[ASN][1000 genomes]
rs1531577	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1564267	0.97[ASN][1000 genomes]
rs2061831	0.85[ASN][1000 genomes]
rs2244234	0.90[ASN][1000 genomes]
rs2250412	0.82[ASN][1000 genomes]
rs2250788	0.91[ASN][1000 genomes]
rs2251056	0.90[ASN][1000 genomes]
rs2254546	0.92[ASN][1000 genomes]
rs2254660	0.91[ASN][1000 genomes]
rs2254891	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2409780	0.83[ASN][1000 genomes]
rs2618444	0.83[ASN][1000 genomes]
rs2618473	0.82[ASN][1000 genomes]
rs2618476	0.81[ASN][1000 genomes]
rs2618478	0.83[ASN][1000 genomes]
rs2618479	0.83[ASN][1000 genomes]
rs2618480	0.91[ASN][1000 genomes]
rs2618481	0.80[ASN][1000 genomes]
rs2736332	0.84[ASN][1000 genomes]
rs2736335	0.94[ASN][1000 genomes]
rs2736337	0.80[ASN][1000 genomes]
rs2736340	0.82[ASN][1000 genomes]
rs2736343	0.89[ASN][1000 genomes]
rs2736344	0.91[ASN][1000 genomes]
rs2736345	0.91[ASN][1000 genomes]
rs35393613	0.97[ASN][1000 genomes]
rs4840565	0.92[ASN][1000 genomes]
rs62489069	0.97[ASN][1000 genomes]
rs7812879	0.98[ASN][1000 genomes]
rs922483	0.87[ASN][1000 genomes]
rs9694294	0.91[ASN][1000 genomes]
rs998682	0.91[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	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13256690	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs13256690	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11334800-11339400	Weak transcription	Esophagus	oesophagus
2	chr8:11336000-11339800	Enhancers	NHEK	skin
3	chr8:11336200-11339400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:11336200-11343200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:11336400-11340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:11336600-11339800	Enhancers	NHDF-Ad	bronchial
7	chr8:11337000-11339200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:11337000-11339600	Enhancers	NH-A	brain
9	chr8:11337000-11339800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:11337000-11339800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:11337000-11339800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:11337000-11339800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:11337000-11339800	Enhancers	HMEC	breast
14	chr8:11337200-11338600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:11337200-11338800	Enhancers	HUVEC	blood vessel
16	chr8:11337200-11339000	Enhancers	HSMMtube	muscle
17	chr8:11337200-11339600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:11337200-11339600	Enhancers	HSMM	muscle
19	chr8:11337200-11339800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:11337600-11339000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:11337800-11339000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:11337800-11339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:11337800-11339200	Enhancers	NHLF	lung
24	chr8:11337800-11341600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:11338000-11338800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:11338000-11338800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:11338000-11339000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
28	chr8:11338000-11340400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:11338200-11339000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:11338200-11339400	Weak transcription	Fetal Thymus	thymus
31	chr8:11338200-11339400	Weak transcription	Spleen	Spleen
32	chr8:11338200-11339600	Enhancers	Osteobl	bone
33	chr8:11338200-11340200	Enhancers	Primary B cells from cord blood	blood
34	chr8:11338200-11341000	Enhancers	GM12878-XiMat	blood
35	chr8:11338200-11341000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:11338200-11350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:11338400-11338800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:11338400-11339800	Enhancers	A549	lung
39	chr8:11338400-11340200	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links