Variant report

Variant	rs10832782
Chromosome Location	chr11:17397273-17397274
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:17397153-17397451	HepG2	liver:	n/a	chr11:17397301-17397316
2	MAFK	chr11:17397161-17397396	IMR90	lung:	n/a	chr11:17397301-17397316
3	POLR2A	chr11:17396969-17397311	K562	blood:	n/a	n/a
4	MAFF	chr11:17397153-17397406	K562	blood:	n/a	chr11:17397300-17397318
5	POLR2A	chr11:17396990-17397284	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:17393968-17398745	K562	blood:	n/a	n/a
7	POLR2A	chr11:17392851-17397500	HepG2	liver:	n/a	n/a
8	MAFF	chr11:17397148-17397431	HepG2	liver:	n/a	chr11:17397300-17397318
9	MAFK	chr11:17397134-17397466	HepG2	liver:	n/a	chr11:17397301-17397316
10	POLR2A	chr11:17397262-17397289	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17392803..17397590-chr11:17399104..17403536,6	K562	blood:
2	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:
3	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:

Variant related genes	Relation type
ENSG00000260196	TF binding region
ENSG00000260196	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10430892	0.87[CHB][hapmap]
rs10466382	0.86[CHB][hapmap]
rs10734253	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10766383	0.82[CHB][hapmap]
rs10766385	0.86[CHB][hapmap]
rs10766389	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10766390	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10766391	0.95[CHB][hapmap];0.96[JPT][hapmap];0.93[ASN][1000 genomes]
rs10832757	0.86[CHB][hapmap]
rs10832763	0.87[CHB][hapmap]
rs10832765	0.86[CHB][hapmap]
rs10832768	0.86[CHB][hapmap]
rs10832769	0.86[CHB][hapmap]
rs10832770	0.87[CHB][hapmap]
rs10832772	0.95[CHB][hapmap];0.96[JPT][hapmap];0.80[ASN][1000 genomes]
rs10832774	0.80[ASN][1000 genomes]
rs10832775	0.95[CHB][hapmap];0.96[JPT][hapmap];0.80[ASN][1000 genomes]
rs10832777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832779	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10832781	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11024246	0.82[CHB][hapmap]
rs11024251	0.87[CHB][hapmap]
rs11024262	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11024263	0.95[CHB][hapmap];0.96[JPT][hapmap]
rs11024272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12791318	0.96[YRI][hapmap]
rs16933984	0.92[YRI][hapmap]
rs2018218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2079042	0.93[ASN][1000 genomes]
rs2354867	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs34327804	0.92[ASN][1000 genomes]
rs4451707	0.88[YRI][hapmap]
rs4756887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5218	0.83[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7110037	0.92[YRI][hapmap]
rs7121987	0.90[YRI][hapmap]
rs7937091	0.96[YRI][hapmap]
rs7950330	0.84[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

No data

Chromatin state (count:61 , 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	chr11:17389000-17398200	ZNF genes & repeats	Ovary	ovary
4	chr11:17390000-17397400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr11:17394200-17401600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:17394200-17401800	Strong transcription	HepG2	liver
7	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:17394400-17400800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:17394400-17402600	Weak transcription	HUVEC	blood vessel
10	chr11:17394400-17403600	Weak transcription	NHLF	lung
11	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
12	chr11:17394400-17410200	Weak transcription	A549	lung
13	chr11:17394600-17398000	Weak transcription	Primary T cells from cord blood	blood
14	chr11:17394600-17400000	Strong transcription	Fetal Intestine Large	intestine
15	chr11:17394600-17401600	Strong transcription	K562	blood
16	chr11:17394800-17400000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:17394800-17400200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:17395000-17401200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:17395000-17402600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:17395200-17397400	Strong transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:17395200-17397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:17395200-17398000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:17395200-17402400	Weak transcription	NHDF-Ad	bronchial
24	chr11:17395200-17402600	Weak transcription	Osteobl	bone
25	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:17395200-17405800	Weak transcription	Gastric	stomach
27	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
28	chr11:17395400-17398800	Weak transcription	HSMMtube	muscle
29	chr11:17395400-17400200	Weak transcription	Hela-S3	cervix
30	chr11:17395600-17397400	Weak transcription	Aorta	Aorta
31	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
32	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:17395800-17399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:17395800-17399200	Weak transcription	NHEK	skin
36	chr11:17395800-17400000	Weak transcription	Brain Germinal Matrix	brain
37	chr11:17395800-17400200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:17395800-17403600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:17395800-17405400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:17395800-17405400	Weak transcription	Left Ventricle	heart
42	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:17396000-17398200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:17396200-17398400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:17396400-17402000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:17396600-17398600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:17396600-17404600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:17396800-17398400	Weak transcription	Fetal Intestine Small	intestine

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