Variant report

Variant	rs12782152
Chromosome Location	chr10:116442108-116442109
allele	A/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];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11196866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196868	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196870	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[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217188	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs217193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217196	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7091958	1.00[ASN][1000 genomes]
rs808257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs808260	0.94[EUR][1000 genomes]
rs808261	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs808262	1.00[AMR][1000 genomes];0.96[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:76 , 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	chr10:116438800-116442200	Weak transcription	Liver	Liver
6	chr10:116439000-116444000	Weak transcription	NHDF-Ad	bronchial
7	chr10:116439000-116444600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:116439200-116443400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:116439800-116444000	Enhancers	Fetal Lung	lung
10	chr10:116440600-116443200	Enhancers	HMEC	breast
11	chr10:116441000-116442600	Enhancers	A549	lung
12	chr10:116441000-116442800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:116441200-116442400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:116441200-116442800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:116441200-116442800	Enhancers	NH-A	brain
16	chr10:116441200-116443000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:116441200-116443200	Enhancers	HSMM	muscle
18	chr10:116441200-116444000	Enhancers	Stomach Mucosa	stomach
19	chr10:116441200-116445200	Flanking Active TSS	HUVEC	blood vessel
20	chr10:116441400-116442200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr10:116441400-116442400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:116441400-116442600	Bivalent Enhancer	Brain Substantia Nigra	brain
23	chr10:116441400-116442600	Enhancers	Fetal Kidney	kidney
24	chr10:116441400-116442800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr10:116441400-116443000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr10:116441400-116443200	Enhancers	Fetal Intestine Large	intestine
27	chr10:116441400-116443200	Enhancers	Fetal Stomach	stomach
28	chr10:116441400-116443800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:116441400-116444000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:116441400-116444000	Flanking Active TSS	Fetal Heart	heart
31	chr10:116441400-116444200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr10:116441400-116444400	Active TSS	Psoas Muscle	Psoas
33	chr10:116441400-116445600	Enhancers	Fetal Brain Male	brain
34	chr10:116441400-116446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:116441600-116442200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:116441600-116442200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:116441600-116442400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:116441600-116442400	Enhancers	Stomach Smooth Muscle	stomach
39	chr10:116441600-116442400	Enhancers	NHLF	lung
40	chr10:116441600-116443000	Enhancers	Colon Smooth Muscle	Colon
41	chr10:116441600-116443000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr10:116441600-116443400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr10:116441600-116443600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:116441600-116444200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:116441600-116444600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr10:116441800-116442600	Weak transcription	Fetal Intestine Small	intestine
47	chr10:116441800-116443000	Weak transcription	Lung	lung
48	chr10:116441800-116443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:116441800-116443200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr10:116441800-116443200	Weak transcription	Fetal Muscle Leg	muscle

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