Variant report

Variant	rs7297997
Chromosome Location	chr12:31579728-31579729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10771826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771830	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771831	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771834	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10771835	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10771837	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843939	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843953	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843954	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843957	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843962	0.87[EUR][1000 genomes]
rs10843966	0.82[EUR][1000 genomes]
rs10843968	0.82[EUR][1000 genomes]
rs10843969	0.80[EUR][1000 genomes]
rs11051414	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11051417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051427	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051440	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051446	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051454	0.84[EUR][1000 genomes]
rs11051461	0.84[EUR][1000 genomes]
rs11051467	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs11051476	1.00[CEU][hapmap]
rs12371432	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1268747	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1560634	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1677193	0.84[CEU][hapmap];0.89[CHB][hapmap]
rs16918740	0.82[EUR][1000 genomes]
rs1879385	0.84[EUR][1000 genomes]
rs2163730	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2351921	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2351922	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2351923	0.87[EUR][1000 genomes]
rs2892638	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34498192	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3741877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3741878	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3803114	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs3850966	0.81[EUR][1000 genomes]
rs3887250	0.92[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap]
rs3898712	0.87[EUR][1000 genomes]
rs3926419	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4930979	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931499	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931511	0.87[EUR][1000 genomes]
rs4931512	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4931513	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs61097018	0.87[EUR][1000 genomes]
rs61918606	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61930275	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487990	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487991	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6487995	0.80[EUR][1000 genomes]
rs7132688	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7136559	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7297507	0.84[EUR][1000 genomes]
rs7299425	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7300106	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7301326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302695	0.84[EUR][1000 genomes]
rs7307615	0.84[AMR][1000 genomes]
rs73080572	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308202	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7313889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314739	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7960380	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7963764	0.86[EUR][1000 genomes]
rs7978277	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
3	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
5	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
6	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
10	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
11	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
12	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
13	chr12:31556200-31587200	Weak transcription	NH-A	brain
14	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
15	chr12:31558200-31580000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
18	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:31566800-31579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:31567400-31635800	Weak transcription	Osteobl	bone
21	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:31572000-31612600	Weak transcription	HSMM	muscle
23	chr12:31572000-31631200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:31572000-31631200	Weak transcription	HSMMtube	muscle
25	chr12:31572400-31589000	Weak transcription	Aorta	Aorta
26	chr12:31572400-31596000	Weak transcription	Lung	lung
27	chr12:31572400-31604800	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:31572400-31620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:31572400-31627400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:31572400-31628400	Weak transcription	Right Ventricle	heart
31	chr12:31572400-31631200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:31572600-31584400	Weak transcription	Fetal Kidney	kidney
33	chr12:31572600-31600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:31573400-31597600	Weak transcription	Primary B cells from cord blood	blood
35	chr12:31573800-31583000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:31573800-31584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:31574200-31595200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:31574600-31583800	Weak transcription	Fetal Stomach	stomach
39	chr12:31576000-31579800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:31577000-31599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:31577400-31593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:31577600-31582400	Weak transcription	Fetal Intestine Small	intestine
43	chr12:31577600-31597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:31577600-31600200	Weak transcription	Adipose Nuclei	Adipose
45	chr12:31577800-31583600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:31578200-31583600	Weak transcription	Ovary	ovary
48	chr12:31578200-31599800	Weak transcription	Brain Germinal Matrix	brain
49	chr12:31578200-31604800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:31578400-31584800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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