Variant report

Variant	rs10832781
Chromosome Location	chr11:17396517-17396518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17392803..17397590-chr11:17399104..17403536,6	K562	blood:
2	chr11:17387455..17389488-chr11:17394125..17397016,2	K562	blood:
3	chr11:17389738..17391541-chr11:17394315..17396637,3	K562	blood:
4	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:

Variant related genes	Relation type
ENSG00000260196	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10430892	0.95[CHB][hapmap]
rs10466382	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs10766383	0.86[CHB][hapmap]
rs10766385	0.91[CHB][hapmap]
rs10766389	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10766390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10766391	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10832757	0.91[CHB][hapmap]
rs10832763	0.91[CEU][hapmap];0.91[CHB][hapmap]
rs10832765	0.90[CHB][hapmap]
rs10832768	0.91[CHB][hapmap]
rs10832769	0.91[CHB][hapmap]
rs10832770	0.91[CHB][hapmap]
rs10832772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs10832773	0.80[ASN][1000 genomes]
rs10832774	0.83[ASN][1000 genomes]
rs10832775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10832777	0.96[ASN][1000 genomes]
rs10832779	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10832782	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11024246	0.86[CHB][hapmap]
rs11024251	0.91[CHB][hapmap]
rs11024262	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs11024263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11024272	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2018218	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2079042	0.97[ASN][1000 genomes]
rs2354867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34327804	0.95[ASN][1000 genomes]
rs4756887	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs5218	0.87[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7950330	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10832781	GTF2H1	cis	cerebellum	SCAN
rs10832781	PLEKHA7	cis	parietal	SCAN
rs10832781	ABCC8	cis	cerebellum	SCAN
rs10832781	NCR3LG1	cis	Esophagus Mucosa	GTEx
rs10832781	KCNJ11	cis	cerebellum	SCAN
rs10832781	ABCC8	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17387200-17398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:17388200-17396800	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr11:17388600-17396800	ZNF genes & repeats	Dnd41	blood
5	chr11:17389000-17398200	ZNF genes & repeats	Ovary	ovary
6	chr11:17389800-17397000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:17390000-17397400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr11:17390400-17396600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:17394200-17401600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:17394200-17401800	Strong transcription	HepG2	liver
11	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:17394400-17397200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:17394400-17400800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:17394400-17402600	Weak transcription	HUVEC	blood vessel
15	chr11:17394400-17403600	Weak transcription	NHLF	lung
16	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
17	chr11:17394400-17410200	Weak transcription	A549	lung
18	chr11:17394600-17398000	Weak transcription	Primary T cells from cord blood	blood
19	chr11:17394600-17400000	Strong transcription	Fetal Intestine Large	intestine
20	chr11:17394600-17401600	Strong transcription	K562	blood
21	chr11:17394800-17400000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:17394800-17400200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:17395000-17401200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:17395000-17402600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:17395200-17396800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:17395200-17397000	Weak transcription	Brain Anterior Caudate	brain
27	chr11:17395200-17397200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:17395200-17397400	Strong transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:17395200-17397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:17395200-17398000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:17395200-17402400	Weak transcription	NHDF-Ad	bronchial
32	chr11:17395200-17402600	Weak transcription	Osteobl	bone
33	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:17395200-17405800	Weak transcription	Gastric	stomach
35	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
36	chr11:17395400-17398800	Weak transcription	HSMMtube	muscle
37	chr11:17395400-17400200	Weak transcription	Hela-S3	cervix
38	chr11:17395600-17397200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:17395600-17397400	Weak transcription	Aorta	Aorta
40	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
41	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:17395800-17396600	Weak transcription	HSMM	muscle
44	chr11:17395800-17397000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:17395800-17399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:17395800-17399200	Weak transcription	NHEK	skin
47	chr11:17395800-17400000	Weak transcription	Brain Germinal Matrix	brain
48	chr11:17395800-17400200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:17395800-17403600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood

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