Variant report

Variant	rs12156418
Chromosome Location	chr8:38924319-38924320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10092021	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10441608	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10809000	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10809001	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11784624	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11985898	0.87[EUR][1000 genomes]
rs28434452	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28563781	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28564878	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579045	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28690874	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28868044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4075849	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4269506	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4517088	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4615534	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4733904	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4733971	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55797573	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56018450	0.82[AMR][1000 genomes]
rs59118660	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59814883	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6474517	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6474525	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67200247	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6991383	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6997721	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7006535	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7013358	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7015505	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7464810	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818363	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7821437	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7830975	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832284	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7834967	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7835604	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7840044	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7844927	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650347	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445313	chr8:38886844-38936643	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3325011	chr8:38899844-38936643	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:38900600-38925600	Weak transcription	Small Intestine	intestine
4	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
6	chr8:38911600-38930000	Weak transcription	Pancreas	Pancrea
7	chr8:38911600-38933200	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:38914000-38929400	Weak transcription	Liver	Liver
13	chr8:38914200-38934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
15	chr8:38914600-38935000	Weak transcription	Brain Anterior Caudate	brain
16	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
17	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:38917400-38929200	Weak transcription	Hela-S3	cervix
19	chr8:38917400-38929800	Weak transcription	Psoas Muscle	Psoas
20	chr8:38917400-38929800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
22	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
23	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:38918800-38928800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:38918800-38928800	Weak transcription	NHEK	skin
26	chr8:38919000-38935000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:38919000-38944400	Weak transcription	Lung	lung
28	chr8:38919000-38949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:38919000-38952600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:38919000-38970400	Weak transcription	K562	blood
31	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:38920200-38934800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:38920400-38925600	Weak transcription	NHDF-Ad	bronchial
34	chr8:38920400-38940800	Weak transcription	Primary B cells from cord blood	blood
35	chr8:38920600-38934400	Weak transcription	Left Ventricle	heart
36	chr8:38920600-38934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:38920600-38935200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:38920600-38938000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:38920600-38963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:38920800-38926400	Weak transcription	HepG2	liver
41	chr8:38920800-38928800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:38920800-38935200	Weak transcription	Ovary	ovary
43	chr8:38920800-38940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:38920800-38964800	Weak transcription	Fetal Brain Male	brain
45	chr8:38921000-38929400	Weak transcription	Adipose Nuclei	Adipose
46	chr8:38921000-38933200	Weak transcription	Placenta	Placenta
47	chr8:38921000-38934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:38921000-38948000	Weak transcription	Aorta	Aorta
49	chr8:38921000-38948200	Weak transcription	Right Ventricle	heart
50	chr8:38921000-38949000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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