Variant report

Variant	rs4931640
Chromosome Location	chr12:32754946-32754947
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10129039	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10129043	0.99[ASN][1000 genomes]
rs10161053	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743799	0.82[ASN][1000 genomes]
rs10743800	1.00[ASN][1000 genomes]
rs10771964	0.86[EUR][1000 genomes]
rs10771965	0.83[ASN][1000 genomes]
rs10771966	0.83[ASN][1000 genomes]
rs10771967	0.82[ASN][1000 genomes]
rs10844249	0.82[ASN][1000 genomes]
rs10844250	0.82[ASN][1000 genomes]
rs10844251	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052090	0.82[ASN][1000 genomes]
rs11052094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052100	1.00[ASN][1000 genomes]
rs1472501	0.82[ASN][1000 genomes]
rs1472502	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1909513	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979826	0.82[ASN][1000 genomes]
rs2036267	0.98[ASN][1000 genomes]
rs2291882	0.83[ASN][1000 genomes]
rs2291883	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291884	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2389103	0.82[ASN][1000 genomes]
rs2389104	0.82[ASN][1000 genomes]
rs4931018	0.82[ASN][1000 genomes]
rs4931021	0.82[ASN][1000 genomes]
rs4931023	0.82[ASN][1000 genomes]
rs4931026	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931639	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931641	0.97[ASN][1000 genomes]
rs6488067	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488068	0.82[ASN][1000 genomes]
rs6488069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488070	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488071	0.99[ASN][1000 genomes]
rs7136686	0.95[EUR][1000 genomes]
rs7300661	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308071	0.83[ASN][1000 genomes]
rs7311621	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7315971	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7316616	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7954226	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962088	0.82[ASN][1000 genomes]
rs7964734	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965993	0.99[ASN][1000 genomes]
rs7968781	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968790	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971634	0.80[ASN][1000 genomes]
rs7977053	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979016	0.99[ASN][1000 genomes]
rs904582	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
3	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
10	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
13	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:32732400-32756600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
16	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
18	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
19	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:32736600-32757000	Weak transcription	HepG2	liver
21	chr12:32736800-32757400	Weak transcription	Fetal Kidney	kidney
22	chr12:32739000-32757000	Weak transcription	Gastric	stomach
23	chr12:32739600-32760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:32739800-32756800	Weak transcription	NHDF-Ad	bronchial
25	chr12:32739800-32764600	Weak transcription	NHLF	lung
26	chr12:32740600-32756200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:32741200-32762000	Weak transcription	Right Ventricle	heart
28	chr12:32741600-32761200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
30	chr12:32742000-32764800	Weak transcription	Spleen	Spleen
31	chr12:32742400-32765600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:32743800-32764600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
34	chr12:32744800-32758000	Weak transcription	Pancreas	Pancrea
35	chr12:32744800-32762000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:32744800-32765000	Weak transcription	Brain Substantia Nigra	brain
37	chr12:32745000-32757600	Weak transcription	HSMMtube	muscle
38	chr12:32745000-32764400	Weak transcription	Lung	lung
39	chr12:32745200-32756400	Weak transcription	Fetal Stomach	stomach
40	chr12:32746400-32755800	Strong transcription	Fetal Intestine Large	intestine
41	chr12:32747200-32757400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:32747200-32760600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:32747400-32757400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:32748000-32756400	Weak transcription	Fetal Intestine Small	intestine
45	chr12:32748200-32755200	Weak transcription	NHEK	skin
46	chr12:32748200-32757000	Strong transcription	Liver	Liver
47	chr12:32748800-32757000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr12:32749000-32758000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:32749000-32764200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:32749000-32764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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