Variant report

Variant	rs11196870
Chromosome Location	chr10:116442854-116442855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11196856	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11196866	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196868	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196871	1.00[ASN][1000 genomes]
rs11196878	1.00[ASN][1000 genomes]
rs11196880	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782152	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217188	0.92[EUR][1000 genomes]
rs217193	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217195	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217196	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217197	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532819	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7091958	1.00[ASN][1000 genomes]
rs808257	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs808260	0.86[EUR][1000 genomes]
rs808261	0.88[EUR][1000 genomes]
rs808262	0.88[EUR][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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116424200-116443000	Weak transcription	Esophagus	oesophagus
2	chr10:116431600-116444000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:116435000-116444000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr10:116438600-116444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:116439000-116444000	Weak transcription	NHDF-Ad	bronchial
6	chr10:116439000-116444600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:116439200-116443400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:116439800-116444000	Enhancers	Fetal Lung	lung
9	chr10:116440600-116443200	Enhancers	HMEC	breast
10	chr10:116441200-116443000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:116441200-116443200	Enhancers	HSMM	muscle
12	chr10:116441200-116444000	Enhancers	Stomach Mucosa	stomach
13	chr10:116441200-116445200	Flanking Active TSS	HUVEC	blood vessel
14	chr10:116441400-116443000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:116441400-116443200	Enhancers	Fetal Intestine Large	intestine
16	chr10:116441400-116443200	Enhancers	Fetal Stomach	stomach
17	chr10:116441400-116443800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:116441400-116444000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:116441400-116444000	Flanking Active TSS	Fetal Heart	heart
20	chr10:116441400-116444200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr10:116441400-116444400	Active TSS	Psoas Muscle	Psoas
22	chr10:116441400-116445600	Enhancers	Fetal Brain Male	brain
23	chr10:116441400-116446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:116441600-116443000	Enhancers	Colon Smooth Muscle	Colon
25	chr10:116441600-116443000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr10:116441600-116443400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr10:116441600-116443600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:116441600-116444200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:116441600-116444600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:116441800-116443000	Weak transcription	Lung	lung
31	chr10:116441800-116443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:116441800-116443200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr10:116441800-116443200	Weak transcription	Fetal Muscle Leg	muscle
34	chr10:116441800-116443200	Weak transcription	Pancreas	Pancrea
35	chr10:116441800-116443200	Weak transcription	Spleen	Spleen
36	chr10:116441800-116443200	Enhancers	HSMMtube	muscle
37	chr10:116441800-116443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:116441800-116443400	Weak transcription	Gastric	stomach
39	chr10:116441800-116443400	Active TSS	Right Atrium	heart
40	chr10:116441800-116443400	Weak transcription	Hela-S3	cervix
41	chr10:116441800-116443600	Active TSS	Right Ventricle	heart
42	chr10:116441800-116444000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:116441800-116444000	Active TSS	Adipose Nuclei	Adipose
44	chr10:116441800-116444000	Active TSS	Left Ventricle	heart
45	chr10:116441800-116444000	Weak transcription	Ovary	ovary
46	chr10:116441800-116445200	Weak transcription	Brain Angular Gyrus	brain
47	chr10:116441800-116445600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:116441800-116450800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr10:116442000-116443000	Weak transcription	Brain Anterior Caudate	brain
50	chr10:116442000-116443400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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