Variant report

Variant	rs12461501
Chromosome Location	chr19:37575833-37575834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10403877	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10426229	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1234287	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459546	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12459805	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460043	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460087	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460098	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460291	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460498	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12460556	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460557	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460577	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460800	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461119	0.82[ASN][1000 genomes]
rs12461358	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12461446	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461563	1.00[ASN][1000 genomes]
rs12461933	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462151	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12462186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12462205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462400	1.00[AFR][1000 genomes]
rs12462623	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462629	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12463101	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12463103	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12463125	0.88[ASN][1000 genomes]
rs12463214	1.00[AFR][1000 genomes]
rs12463280	1.00[ASN][1000 genomes]
rs12463328	0.95[ASN][1000 genomes]
rs1521096	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521097	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521098	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521099	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16960966	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16989369	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17239026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17304758	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17721244	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs17842485	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2305266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs3213840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34191527	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34994400	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35314047	1.00[ASN][1000 genomes]
rs35374722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35692141	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36023046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4358055	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56717658	0.95[ASN][1000 genomes]
rs57057279	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57505463	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58017177	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59044151	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59397049	0.91[ASN][1000 genomes]
rs60479919	0.91[ASN][1000 genomes]
rs61056688	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61371510	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73618072	0.95[ASN][1000 genomes]
rs73618081	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618082	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618086	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618088	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618098	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620807	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620810	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620811	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620813	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620816	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620836	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620839	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620840	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620843	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620852	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620854	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620860	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620862	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620866	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620870	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73624813	0.91[ASN][1000 genomes]
rs73625272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626558	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626564	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626588	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626597	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626600	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8113719	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37570400-37576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:37570600-37580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:37570600-37581000	Weak transcription	Gastric	stomach
4	chr19:37570600-37581600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:37570800-37579800	Weak transcription	Hela-S3	cervix
6	chr19:37571000-37580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:37571000-37594800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:37571200-37577800	Weak transcription	Right Ventricle	heart
9	chr19:37571400-37578000	ZNF genes & repeats	Dnd41	blood
10	chr19:37572400-37578200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:37572400-37594600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:37572600-37595400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:37572800-37577800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:37572800-37578000	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr19:37572800-37594600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr19:37572800-37594800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr19:37572800-37595400	ZNF genes & repeats	Liver	Liver
18	chr19:37573200-37576200	Weak transcription	Pancreas	Pancrea
19	chr19:37573400-37576200	Weak transcription	Aorta	Aorta
20	chr19:37573400-37576200	Weak transcription	Left Ventricle	heart
21	chr19:37573400-37577800	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr19:37573600-37576000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:37573800-37577000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:37574000-37576200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:37574000-37576200	Weak transcription	Lung	lung
26	chr19:37574400-37577000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:37574600-37576000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:37574600-37579600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:37574800-37576000	Weak transcription	Fetal Lung	lung
30	chr19:37574800-37576000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:37574800-37576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:37574800-37576200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:37574800-37576200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:37574800-37576200	Weak transcription	Ovary	ovary
35	chr19:37575400-37576600	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr19:37575400-37580000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:37575400-37592400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:37575400-37595200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:37575600-37576200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:37575800-37576400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:37575800-37576600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr19:37575800-37576600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr19:37575800-37577200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:37575800-37578000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:37575800-37594800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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