Variant report

Variant	rs12207047
Chromosome Location	chr6:149744632-149744633
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]
rs10155766	0.89[ASN][1000 genomes]
rs10872636	0.89[ASN][1000 genomes]
rs11155640	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[ASN][1000 genomes]
rs11155642	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[ASN][1000 genomes]
rs11155645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11155647	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11155649	0.89[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11155650	0.89[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11155651	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11155652	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154153	0.89[ASN][1000 genomes]
rs12191079	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12196348	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12196455	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12196656	0.89[ASN][1000 genomes]
rs12196750	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12197598	0.89[ASN][1000 genomes]
rs12204461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12204793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12207261	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209364	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12211570	0.89[ASN][1000 genomes]
rs17506789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1980774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2143075	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2341774	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2341775	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34097428	0.89[ASN][1000 genomes]
rs4493763	0.89[ASN][1000 genomes]
rs55826712	0.89[ASN][1000 genomes]
rs55836833	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56924465	0.89[ASN][1000 genomes]
rs59820585	0.89[ASN][1000 genomes]
rs60153446	0.89[ASN][1000 genomes]
rs61259243	0.89[ASN][1000 genomes]
rs62426068	0.89[ASN][1000 genomes]
rs62426069	0.89[ASN][1000 genomes]
rs62426088	0.89[ASN][1000 genomes]
rs62426092	0.87[ASN][1000 genomes]
rs62426115	0.89[ASN][1000 genomes]
rs62426122	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66672129	0.89[ASN][1000 genomes]
rs68080376	0.89[ASN][1000 genomes]
rs6911411	1.00[MEX][hapmap]
rs6920383	0.89[ASN][1000 genomes]
rs7349921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs763590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9285520	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[ASN][1000 genomes]
rs9322179	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485389	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485390	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9498322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498323	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498324	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[ASN][1000 genomes]
rs9498325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498328	0.89[ASN][1000 genomes]
rs9498329	0.89[ASN][1000 genomes]
rs9498330	0.89[ASN][1000 genomes]
rs9498332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498334	0.89[ASN][1000 genomes]
rs9498335	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[ASN][1000 genomes]
rs9498336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498342	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9498344	0.87[ASN][1000 genomes]
rs9498348	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498355	0.81[MEX][hapmap]
rs997682	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[ASN][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	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv517606	chr6:149744632-149755695	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149709600-149750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:149721800-149744800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:149721800-149745200	Weak transcription	Pancreas	Pancrea
4	chr6:149722000-149745000	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:149731600-149745200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:149731600-149745200	Weak transcription	Left Ventricle	heart
7	chr6:149731600-149745200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:149731800-149745200	Weak transcription	Fetal Brain Female	brain
9	chr6:149732200-149745000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:149732400-149745200	Weak transcription	Brain Germinal Matrix	brain
11	chr6:149732600-149744800	Weak transcription	NH-A	brain
12	chr6:149732600-149745400	Weak transcription	Dnd41	blood
13	chr6:149732800-149744800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:149733200-149744800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:149733400-149744800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:149733600-149744800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:149735600-149744800	Weak transcription	Adipose Nuclei	Adipose
18	chr6:149739800-149744800	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:149742000-149745000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:149744000-149745600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:149744000-149746800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:149744200-149744800	Bivalent Enhancer	HepG2	liver
23	chr6:149744200-149745600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:149744400-149745000	Enhancers	Liver	Liver
25	chr6:149744400-149745200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:149744400-149745200	Active TSS	Brain Anterior Caudate	brain
27	chr6:149744400-149745200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr6:149744400-149745200	Weak transcription	Placenta	Placenta
29	chr6:149744400-149745200	Weak transcription	Lung	lung
30	chr6:149744400-149745400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:149744400-149745400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:149744400-149745400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:149744400-149745400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:149744400-149745400	Enhancers	HSMMtube	muscle
35	chr6:149744400-149745400	Flanking Active TSS	Osteobl	bone
36	chr6:149744400-149745600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:149744400-149745600	Enhancers	Ovary	ovary
38	chr6:149744600-149744800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:149744600-149744800	Active TSS	Brain Substantia Nigra	brain
40	chr6:149744600-149744800	Enhancers	Fetal Lung	lung
41	chr6:149744600-149745000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:149744600-149745000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr6:149744600-149745000	Enhancers	NHLF	lung
44	chr6:149744600-149745200	Active TSS	Brain Angular Gyrus	brain
45	chr6:149744600-149745200	Active TSS	Brain Cingulate Gyrus	brain
46	chr6:149744600-149745200	Active TSS	Brain Hippocampus Middle	brain
47	chr6:149744600-149745200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:149744600-149745200	Enhancers	Fetal Intestine Small	intestine
49	chr6:149744600-149745200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr6:149744600-149745400	Active TSS	Aorta	Aorta

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