Variant report

Variant	rs73319393
Chromosome Location	chr8:119626616-119626617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73311844	1.00[AMR][1000 genomes]
rs73311846	1.00[AMR][1000 genomes]
rs73311898	1.00[AMR][1000 genomes]
rs73319370	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325086	1.00[AMR][1000 genomes]
rs73327130	1.00[AMR][1000 genomes]
rs7815228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119605800-119631800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:119609200-119633000	Weak transcription	Gastric	stomach
3	chr8:119609400-119633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:119619400-119632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:119622200-119626800	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:119622400-119627000	Weak transcription	NHEK	skin
7	chr8:119622800-119626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:119623200-119626800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:119623200-119627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:119623200-119632200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:119623800-119632800	Weak transcription	Fetal Lung	lung
12	chr8:119624200-119632800	Weak transcription	Pancreas	Pancrea
13	chr8:119624400-119628600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:119625200-119632000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:119625600-119626800	Weak transcription	GM12878-XiMat	blood
16	chr8:119626200-119626800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:119626200-119627400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:119626400-119627000	Enhancers	Brain Substantia Nigra	brain
19	chr8:119626400-119627600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:119626400-119627600	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:119626400-119627800	Enhancers	Right Atrium	heart
22	chr8:119626400-119628200	Enhancers	HSMMtube	muscle
23	chr8:119626400-119630600	Enhancers	Brain Angular Gyrus	brain
24	chr8:119626600-119627000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:119626600-119627000	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:119626600-119627000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:119626600-119627000	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr8:119626600-119627200	Enhancers	Aorta	Aorta
29	chr8:119626600-119627200	Enhancers	Right Ventricle	heart
30	chr8:119626600-119627600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:119626600-119627600	Enhancers	Fetal Heart	heart
32	chr8:119626600-119627800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:119626600-119627800	Enhancers	Fetal Muscle Leg	muscle
34	chr8:119626600-119627800	Enhancers	Left Ventricle	heart
35	chr8:119626600-119628000	Enhancers	Esophagus	oesophagus
36	chr8:119626600-119628000	Enhancers	Lung	lung
37	chr8:119626600-119628200	Enhancers	HSMM	muscle
38	chr8:119626600-119629000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:119626600-119629000	Enhancers	Brain Anterior Caudate	brain
40	chr8:119626600-119630600	Enhancers	Brain Inferior Temporal Lobe	brain

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