Variant report

Variant	rs12460821
Chromosome Location	chr19:37602439-37602440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1234287	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459805	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459844	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460285	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	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]
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]
rs12461501	1.00[AFR][1000 genomes];1.00[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	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[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37594800-37603200	Weak transcription	HSMMtube	muscle
2	chr19:37594800-37604400	Weak transcription	HSMM	muscle
3	chr19:37596600-37608000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37597200-37607400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr19:37597200-37608000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:37597200-37608000	ZNF genes & repeats	Liver	Liver
7	chr19:37597200-37608000	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:37597200-37608000	ZNF genes & repeats	Ovary	ovary
9	chr19:37597200-37608200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr19:37597200-37608400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:37597200-37608600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37597200-37608800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:37597400-37605200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
14	chr19:37597400-37608000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr19:37597400-37608000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:37597400-37608000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr19:37597400-37608000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr19:37597400-37608000	ZNF genes & repeats	Left Ventricle	heart
19	chr19:37597400-37608200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr19:37598000-37603800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:37598400-37602600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:37599200-37602800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:37599200-37618000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:37599400-37603000	Weak transcription	Fetal Heart	heart
25	chr19:37599400-37604200	Weak transcription	Osteobl	bone
26	chr19:37599400-37605800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:37600400-37602800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:37600400-37602800	Weak transcription	Thymus	Thymus
29	chr19:37600400-37603000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:37600600-37602600	Weak transcription	Lung	lung
31	chr19:37600600-37602800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:37600600-37602800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:37600600-37603000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:37600600-37603000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:37600600-37603200	Weak transcription	Fetal Stomach	stomach
36	chr19:37600600-37603200	Weak transcription	Pancreas	Pancrea
37	chr19:37600800-37602800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr19:37600800-37602800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:37601200-37602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:37601200-37603200	Weak transcription	Esophagus	oesophagus
41	chr19:37601400-37602800	Weak transcription	Fetal Brain Male	brain
42	chr19:37601400-37602800	Weak transcription	Fetal Kidney	kidney
43	chr19:37601600-37607000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
44	chr19:37601600-37607400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr19:37601600-37608000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr19:37601600-37608000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr19:37601600-37608000	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr19:37601600-37608000	ZNF genes & repeats	Fetal Brain Female	brain
49	chr19:37601800-37602600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:37601800-37602800	Weak transcription	Brain Angular Gyrus	brain

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