Variant report

Variant	rs4931511
Chromosome Location	chr12:31675080-31675081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10771826	0.84[EUR][1000 genomes]
rs10771830	0.89[EUR][1000 genomes]
rs10771831	0.86[EUR][1000 genomes]
rs10771833	0.92[EUR][1000 genomes]
rs10771834	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10771835	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10771837	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843937	0.85[EUR][1000 genomes]
rs10843938	0.85[EUR][1000 genomes]
rs10843939	0.86[EUR][1000 genomes]
rs10843953	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843954	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843957	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843962	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843966	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843968	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843969	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843971	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843972	0.83[EUR][1000 genomes]
rs11051417	0.85[EUR][1000 genomes]
rs11051427	0.87[EUR][1000 genomes]
rs11051428	0.88[EUR][1000 genomes]
rs11051440	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051446	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051454	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051461	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051467	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051472	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051476	0.84[EUR][1000 genomes]
rs1150948	0.88[ASN][1000 genomes]
rs1150949	0.95[ASN][1000 genomes]
rs12368987	0.84[EUR][1000 genomes]
rs12369701	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12371432	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259360	0.95[ASN][1000 genomes]
rs1268747	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560634	0.83[EUR][1000 genomes]
rs16918740	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1879385	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2163730	0.87[EUR][1000 genomes]
rs2351921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351922	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351923	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892638	0.84[EUR][1000 genomes]
rs34498192	0.90[EUR][1000 genomes]
rs3741877	0.85[EUR][1000 genomes]
rs3741878	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3803114	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3850966	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3887250	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3898712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930979	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4931499	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61097018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61918606	0.86[EUR][1000 genomes]
rs61930275	0.84[EUR][1000 genomes]
rs6487990	0.84[EUR][1000 genomes]
rs6487991	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6487995	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7132688	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136559	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7297507	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297997	0.87[EUR][1000 genomes]
rs7299425	0.83[EUR][1000 genomes]
rs7300106	0.88[EUR][1000 genomes]
rs7301326	0.86[EUR][1000 genomes]
rs7302695	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73080572	0.86[EUR][1000 genomes]
rs7308202	0.89[EUR][1000 genomes]
rs7311970	0.84[EUR][1000 genomes]
rs7313889	0.86[EUR][1000 genomes]
rs7314404	0.87[EUR][1000 genomes]
rs7314739	0.86[EUR][1000 genomes]
rs7960380	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963764	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7978277	0.84[EUR][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:75 , 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	chr12:31670000-31675400	Enhancers	Fetal Kidney	kidney
5	chr12:31670000-31675400	Enhancers	Fetal Lung	lung
6	chr12:31670000-31676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:31670200-31676800	Enhancers	Fetal Heart	heart
8	chr12:31671000-31680200	Weak transcription	Right Atrium	heart
9	chr12:31671200-31675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:31671400-31675200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:31671400-31677600	Enhancers	GM12878-XiMat	blood
12	chr12:31671600-31675200	Enhancers	NHEK	skin
13	chr12:31671800-31677800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:31672000-31678600	Weak transcription	Left Ventricle	heart
15	chr12:31672200-31678400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:31672200-31678600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:31672200-31680000	Weak transcription	Right Ventricle	heart
18	chr12:31672400-31676000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:31672400-31676600	Enhancers	Hela-S3	cervix
20	chr12:31672400-31677200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:31672600-31675400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:31672600-31677600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:31672600-31679000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:31672800-31677800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:31672800-31681000	Weak transcription	Brain Anterior Caudate	brain
26	chr12:31673000-31675400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:31673000-31677200	Weak transcription	HSMMtube	muscle
28	chr12:31673000-31678000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:31673000-31678000	Weak transcription	Fetal Brain Female	brain
30	chr12:31673000-31684600	Weak transcription	Aorta	Aorta
31	chr12:31673000-31685200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:31673200-31679600	Weak transcription	Brain Substantia Nigra	brain
33	chr12:31673400-31675400	Weak transcription	Brain Germinal Matrix	brain
34	chr12:31673400-31676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:31673400-31676800	Weak transcription	HSMM	muscle
36	chr12:31673400-31677600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:31673400-31677600	Weak transcription	HMEC	breast
38	chr12:31673400-31677800	Weak transcription	Primary B cells from cord blood	blood
39	chr12:31673400-31677800	Weak transcription	NHDF-Ad	bronchial
40	chr12:31673400-31681200	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:31673400-31681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:31673400-31688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:31673600-31675400	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:31674000-31676800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:31674200-31675600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:31674200-31676400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:31674600-31675200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:31674600-31675400	Enhancers	Liver	Liver
49	chr12:31674600-31675400	Flanking Active TSS	A549	lung
50	chr12:31674600-31675800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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