Variant report

Variant	rs12369701
Chromosome Location	chr12:31674691-31674692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10771835	0.81[ASN][1000 genomes]
rs10771837	0.83[ASN][1000 genomes]
rs10843953	0.82[ASN][1000 genomes]
rs10843954	0.83[ASN][1000 genomes]
rs10843957	0.95[ASN][1000 genomes]
rs10843962	0.99[ASN][1000 genomes]
rs10843966	0.93[ASN][1000 genomes]
rs10843968	0.91[ASN][1000 genomes]
rs10843969	0.89[ASN][1000 genomes]
rs10843971	0.88[ASN][1000 genomes]
rs11051440	0.83[ASN][1000 genomes]
rs11051446	0.88[ASN][1000 genomes]
rs11051454	0.96[ASN][1000 genomes]
rs11051461	0.95[ASN][1000 genomes]
rs11051467	0.91[ASN][1000 genomes]
rs11051472	0.88[ASN][1000 genomes]
rs1150948	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1150949	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371432	0.99[ASN][1000 genomes]
rs1259360	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1268747	0.99[ASN][1000 genomes]
rs16918740	0.91[ASN][1000 genomes]
rs1879385	0.95[ASN][1000 genomes]
rs2351921	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2351922	0.98[ASN][1000 genomes]
rs2351923	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3741878	0.88[ASN][1000 genomes]
rs3803114	0.89[ASN][1000 genomes]
rs3850966	0.91[ASN][1000 genomes]
rs3898712	0.99[ASN][1000 genomes]
rs4930979	0.95[ASN][1000 genomes]
rs4931499	0.81[ASN][1000 genomes]
rs4931511	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4931512	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4931513	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61097018	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6487991	0.88[ASN][1000 genomes]
rs6487995	0.89[ASN][1000 genomes]
rs7132688	0.99[ASN][1000 genomes]
rs7136559	0.85[ASN][1000 genomes]
rs7297507	0.94[ASN][1000 genomes]
rs7302695	0.96[ASN][1000 genomes]
rs7960380	0.91[ASN][1000 genomes]
rs7963764	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:31667800-31675400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:31667800-31687600	Weak transcription	Pancreas	Pancrea
3	chr12:31669800-31677800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:31670000-31674800	Enhancers	HUVEC	blood vessel
5	chr12:31670000-31675400	Enhancers	Fetal Kidney	kidney
6	chr12:31670000-31675400	Enhancers	Fetal Lung	lung
7	chr12:31670000-31676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:31670200-31676800	Enhancers	Fetal Heart	heart
9	chr12:31671000-31680200	Weak transcription	Right Atrium	heart
10	chr12:31671200-31675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:31671400-31675200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:31671400-31677600	Enhancers	GM12878-XiMat	blood
13	chr12:31671600-31675200	Enhancers	NHEK	skin
14	chr12:31671800-31677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31672000-31678600	Weak transcription	Left Ventricle	heart
16	chr12:31672200-31675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:31672200-31678400	Weak transcription	Adipose Nuclei	Adipose
18	chr12:31672200-31678600	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:31672200-31680000	Weak transcription	Right Ventricle	heart
20	chr12:31672400-31676000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:31672400-31676600	Enhancers	Hela-S3	cervix
22	chr12:31672400-31677200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:31672600-31674800	Weak transcription	HepG2	liver
24	chr12:31672600-31675000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:31672600-31675400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:31672600-31677600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:31672600-31679000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:31672800-31677800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:31672800-31681000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:31673000-31675000	Weak transcription	Fetal Stomach	stomach
31	chr12:31673000-31675000	Weak transcription	Ovary	ovary
32	chr12:31673000-31675400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:31673000-31677200	Weak transcription	HSMMtube	muscle
34	chr12:31673000-31678000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:31673000-31678000	Weak transcription	Fetal Brain Female	brain
36	chr12:31673000-31684600	Weak transcription	Aorta	Aorta
37	chr12:31673000-31685200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:31673200-31679600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:31673400-31674800	Weak transcription	NH-A	brain
40	chr12:31673400-31675000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:31673400-31675000	Weak transcription	Fetal Intestine Small	intestine
42	chr12:31673400-31675400	Weak transcription	Brain Germinal Matrix	brain
43	chr12:31673400-31676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:31673400-31676800	Weak transcription	HSMM	muscle
45	chr12:31673400-31677600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:31673400-31677600	Weak transcription	HMEC	breast
47	chr12:31673400-31677800	Weak transcription	Primary B cells from cord blood	blood
48	chr12:31673400-31677800	Weak transcription	NHDF-Ad	bronchial
49	chr12:31673400-31681200	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:31673400-31681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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