Variant report

Variant	rs12709812
Chromosome Location	chr19:37794850-37794851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1015849	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs10403613	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10404602	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10404920	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs10405064	0.86[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10405325	0.82[EUR][1000 genomes]
rs10405407	0.82[ASW][hapmap];0.86[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs10406177	0.82[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs10407084	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs10409204	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs10412043	0.88[EUR][1000 genomes]
rs10413602	0.80[EUR][1000 genomes]
rs10414904	0.86[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs10415024	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10415358	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10415937	0.86[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs10417503	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10417844	0.82[ASW][hapmap];0.81[CEU][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs10420430	0.80[EUR][1000 genomes]
rs10420754	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs10422074	0.80[EUR][1000 genomes]
rs10422423	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422967	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10424574	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10426297	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10426666	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10426699	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12104380	0.86[EUR][1000 genomes]
rs12104381	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12709813	0.87[EUR][1000 genomes]
rs12981532	0.80[EUR][1000 genomes]
rs12982333	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13343471	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.81[MKK][hapmap]
rs13343485	0.85[EUR][1000 genomes]
rs13343502	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs13345116	0.86[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs13345148	0.89[EUR][1000 genomes]
rs1373991	0.82[ASW][hapmap];0.86[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs1382357	0.81[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs1529957	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs1559229	0.86[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs1823061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2081096	0.81[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs2112923	0.82[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs2303131	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.81[MKK][hapmap]
rs28402338	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2891699	0.82[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs34544865	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34603719	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35085437	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3745765	0.82[ASW][hapmap];0.86[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs3760825	0.82[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs4417644	0.86[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4452075	0.82[ASW][hapmap];0.86[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs4801759	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs4801803	0.86[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.81[MKK][hapmap]
rs4803229	0.82[ASW][hapmap];0.86[CEU][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs4803347	0.87[EUR][1000 genomes]
rs4969487	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508711	0.89[EUR][1000 genomes]
rs6508716	0.88[EUR][1000 genomes]
rs6508719	0.93[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs67293224	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs713256	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7246657	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap]
rs7246993	0.80[EUR][1000 genomes]
rs7247259	0.86[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs7252346	0.82[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs7253091	0.81[ASW][hapmap];0.86[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap]
rs7253114	0.81[CEU][hapmap];0.80[GIH][hapmap]
rs7255972	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap]
rs7257495	0.89[EUR][1000 genomes]
rs7257672	0.86[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs7258692	0.94[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7259968	0.89[EUR][1000 genomes]
rs7408133	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7408446	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7408563	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8106839	0.88[ASW][hapmap];0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap]
rs8111782	0.86[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs8112011	1.00[CHB][hapmap]
rs9304566	0.86[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9917081	0.86[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3520361	chr19:37745067-37811325	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3520362	chr19:37745067-37811325	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv978811	chr19:37749967-37820517	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv821351	chr19:37756399-37796493	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv12700	chr19:37756909-37794853	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3337270	chr19:37758512-37795610	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3369946	chr19:37758512-37795610	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3377915	chr19:37758512-37795610	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3416120	chr19:37758512-37795610	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3430128	chr19:37758512-37795610	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv3390818	chr19:37758512-37795710	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37794400-37795400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr19:37794400-37795400	Active TSS	Right Ventricle	heart
3	chr19:37794400-37795600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:37794400-37795600	Active TSS	Brain Hippocampus Middle	brain
5	chr19:37794400-37795600	ZNF genes & repeats	Esophagus	oesophagus
6	chr19:37794400-37795600	ZNF genes & repeats	Gastric	stomach
7	chr19:37794400-37795600	Active TSS	Left Ventricle	heart
8	chr19:37794400-37795800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr19:37794400-37795800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:37794400-37795800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:37794400-37795800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:37794400-37795800	Active TSS	Brain Cingulate Gyrus	brain
13	chr19:37794400-37795800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:37794400-37795800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:37794400-37795800	Active TSS	Rectal Smooth Muscle	rectum
16	chr19:37794400-37795800	Active TSS	Stomach Smooth Muscle	stomach
17	chr19:37794400-37796000	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr19:37794400-37796400	ZNF genes & repeats	Pancreas	Pancrea
19	chr19:37794400-37796600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:37794400-37796600	ZNF genes & repeats	Liver	Liver
21	chr19:37794400-37796600	ZNF genes & repeats	Lung	lung
22	chr19:37794400-37797200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr19:37794400-37797200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr19:37794400-37797400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:37794400-37798400	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:37794600-37795000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:37794600-37795000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr19:37794600-37795000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr19:37794600-37795000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr19:37794600-37795200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:37794600-37795200	Active TSS	NHDF-Ad	bronchial
32	chr19:37794600-37795400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:37794600-37795400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:37794600-37795400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:37794600-37795400	Active TSS	Aorta	Aorta
36	chr19:37794600-37795400	Active TSS	Psoas Muscle	Psoas
37	chr19:37794600-37795400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr19:37794600-37795600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:37794600-37795600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:37794600-37795600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:37794600-37795600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:37794600-37795600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr19:37794600-37795600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr19:37794600-37795600	Active TSS	Brain Angular Gyrus	brain
45	chr19:37794600-37795600	Active TSS	Brain Anterior Caudate	brain
46	chr19:37794600-37795600	Active TSS	Colon Smooth Muscle	Colon
47	chr19:37794600-37795600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr19:37794600-37795600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr19:37794600-37795600	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr19:37794600-37795600	ZNF genes & repeats	HSMMtube	muscle

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