Variant report

Variant	rs7954226
Chromosome Location	chr12:32756805-32756806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10047581	1.00[CHB][hapmap]
rs10129039	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10129043	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10161053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506097	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10743799	0.90[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10743800	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771965	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771966	0.91[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771967	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10844249	0.91[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10844250	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10844251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052090	0.91[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11052094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052100	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472501	0.95[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1472502	0.93[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1909513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979824	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs1979826	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2036267	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291882	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291883	0.83[ASN][1000 genomes]
rs2291884	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs2389102	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2389103	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2389104	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931018	0.91[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931021	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931023	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931026	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931027	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4931640	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931641	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488067	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6488068	0.95[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488070	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6488071	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308071	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7311621	0.81[ASN][1000 genomes]
rs7316616	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962088	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7964734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965993	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7968781	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968790	0.98[ASN][1000 genomes]
rs7971634	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7977053	0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7979016	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs904582	0.92[CHB][hapmap];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:100 , 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	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
12	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
14	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
16	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
17	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:32736600-32757000	Weak transcription	HepG2	liver
19	chr12:32736800-32757400	Weak transcription	Fetal Kidney	kidney
20	chr12:32739000-32757000	Weak transcription	Gastric	stomach
21	chr12:32739600-32760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:32739800-32764600	Weak transcription	NHLF	lung
23	chr12:32741200-32762000	Weak transcription	Right Ventricle	heart
24	chr12:32741600-32761200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach
26	chr12:32742000-32764800	Weak transcription	Spleen	Spleen
27	chr12:32742400-32765600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:32743800-32764600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
30	chr12:32744800-32758000	Weak transcription	Pancreas	Pancrea
31	chr12:32744800-32762000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:32744800-32765000	Weak transcription	Brain Substantia Nigra	brain
33	chr12:32745000-32757600	Weak transcription	HSMMtube	muscle
34	chr12:32745000-32764400	Weak transcription	Lung	lung
35	chr12:32747200-32757400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:32747200-32760600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:32747400-32757400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:32748200-32757000	Strong transcription	Liver	Liver
39	chr12:32748800-32757000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr12:32749000-32758000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:32749000-32764200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:32749000-32764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:32749800-32757200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:32750000-32762200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:32750000-32765000	Strong transcription	Adipose Nuclei	Adipose
46	chr12:32750000-32770400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:32752000-32762000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:32753000-32757000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:32753000-32774200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:32754200-32758200	Strong transcription	Ovary	ovary

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