Variant report

Variant	rs11784953
Chromosome Location	chr8:131408566-131408567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11784783	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11784889	0.88[YRI][hapmap]
rs16904265	0.94[AFR][1000 genomes]
rs34179841	0.87[EUR][1000 genomes]
rs35220844	0.87[EUR][1000 genomes]
rs60744896	0.87[EUR][1000 genomes]
rs72724478	0.87[EUR][1000 genomes]
rs72724485	0.87[EUR][1000 genomes]
rs72724491	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724496	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724497	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726219	0.88[EUR][1000 genomes]
rs72726221	0.86[EUR][1000 genomes]
rs72726230	0.86[EUR][1000 genomes]
rs7816470	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7817038	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
4	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
6	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
7	chr8:131394200-131408800	Weak transcription	NH-A	brain
8	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
9	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
12	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
13	chr8:131399200-131408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:131399200-131408800	Weak transcription	Brain Anterior Caudate	brain
15	chr8:131399400-131408600	Weak transcription	Fetal Lung	lung
16	chr8:131399400-131409600	Weak transcription	HMEC	breast
17	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:131401200-131408800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:131405200-131410000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:131405600-131408800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:131405600-131408800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:131405600-131409000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:131405600-131410800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:131405600-131412800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:131406400-131408800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:131406800-131417000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:131407000-131410200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:131407000-131414600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:131407200-131409400	Enhancers	Ovary	ovary
34	chr8:131407200-131414400	Strong transcription	NHEK	skin
35	chr8:131407200-131414800	Strong transcription	A549	lung
36	chr8:131407400-131408600	Weak transcription	Fetal Kidney	kidney
37	chr8:131407400-131408600	Weak transcription	HSMM	muscle
38	chr8:131407400-131409600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:131407400-131413600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:131407600-131408800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:131407600-131409400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:131407600-131410000	Enhancers	HSMMtube	muscle
44	chr8:131407600-131410200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:131407800-131408600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:131407800-131408600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:131407800-131408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:131407800-131409000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:131407800-131409000	Weak transcription	Left Ventricle	heart
50	chr8:131407800-131409600	Enhancers	NHDF-Ad	bronchial

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