Variant report

Variant	rs758170
Chromosome Location	chr12:2361460-2361461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006737	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1024582	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10744560	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774034	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10774035	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774036	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10848642	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs11062159	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs11062161	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs11062162	0.81[ASN][1000 genomes]
rs11062166	0.81[ASN][1000 genomes]
rs11062170	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1108073	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1108074	0.82[CHB][hapmap]
rs1108075	0.81[ASN][1000 genomes]
rs1108221	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1108222	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs12311439	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12315711	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12424245	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2007044	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2159100	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190771	0.81[ASN][1000 genomes]
rs2239038	0.82[MEX][hapmap]
rs2370414	0.82[MEX][hapmap]
rs3922316	0.81[ASN][1000 genomes]
rs4298967	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4765904	0.83[CEU][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4765905	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297582	0.82[JPT][hapmap];0.85[TSI][hapmap]
rs769087	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965923	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2344400-2365000	Weak transcription	Aorta	Aorta
2	chr12:2349400-2364800	Weak transcription	Fetal Brain Male	brain
3	chr12:2352000-2365000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:2352200-2362200	Enhancers	Left Ventricle	heart
5	chr12:2352400-2361800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:2353800-2361800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:2353800-2364800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:2353800-2364800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:2353800-2364800	Weak transcription	Fetal Kidney	kidney
10	chr12:2353800-2365000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:2354000-2364800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:2354000-2365000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:2354400-2364800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:2354600-2364800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:2354800-2365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:2355400-2364800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:2355400-2364800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:2356200-2364800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:2357000-2362600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:2357400-2362200	Enhancers	Spleen	Spleen
21	chr12:2358000-2364800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:2358000-2364800	Weak transcription	HSMM	muscle
23	chr12:2358200-2361800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:2358200-2362000	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:2358200-2363600	Enhancers	Colon Smooth Muscle	Colon
26	chr12:2358200-2364800	Weak transcription	Esophagus	oesophagus
27	chr12:2358200-2364800	Weak transcription	Fetal Lung	lung
28	chr12:2358200-2364800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:2358200-2364800	Weak transcription	Stomach Mucosa	stomach
30	chr12:2358200-2364800	Weak transcription	HSMMtube	muscle
31	chr12:2358400-2364800	Weak transcription	Lung	lung
32	chr12:2358800-2364800	Weak transcription	NH-A	brain
33	chr12:2358800-2365000	Weak transcription	Fetal Intestine Large	intestine
34	chr12:2359400-2361800	Enhancers	Right Ventricle	heart
35	chr12:2359600-2363000	Enhancers	HepG2	liver
36	chr12:2359600-2365000	Weak transcription	Brain Angular Gyrus	brain
37	chr12:2359800-2362200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:2360000-2361800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:2360000-2361800	Enhancers	NHLF	lung
40	chr12:2360200-2361800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:2360200-2363800	Enhancers	Fetal Heart	heart
42	chr12:2360200-2365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:2360400-2361800	Enhancers	Fetal Muscle Leg	muscle
44	chr12:2360600-2361600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:2360600-2362000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:2360600-2365000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:2360800-2361600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:2360800-2361800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:2360800-2362000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr12:2360800-2365000	Weak transcription	Adipose Nuclei	Adipose

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