Variant report

Variant	rs1493931
Chromosome Location	chr8:119756653-119756654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10505338	0.94[AMR][1000 genomes];0.99[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	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv891414	chr8:119755490-119881550	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1493931	ZNF341	cis	Cerebellum	GTEx
rs1493931	KIAA1958	cis	Cerebellum	GTEx
rs1493931	NIF3L1	cis	Cerebellum	GTEx
rs1493931	LOC284297	cis	Cerebellum	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119754800-119762200	Enhancers	NHDF-Ad	bronchial
2	chr8:119755200-119758400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:119755200-119759400	Enhancers	NHLF	lung
4	chr8:119755200-119761400	Enhancers	Osteobl	bone
5	chr8:119755400-119758400	Enhancers	Hela-S3	cervix
6	chr8:119755400-119762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:119755600-119756800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:119755600-119756800	Enhancers	Aorta	Aorta
9	chr8:119755600-119758400	Enhancers	HSMM	muscle
10	chr8:119755600-119759200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:119756000-119756800	Enhancers	NH-A	brain
12	chr8:119756000-119757800	Weak transcription	Adipose Nuclei	Adipose
13	chr8:119756000-119757800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:119756000-119759000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:119756000-119759000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119756200-119760800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:119756200-119761800	Enhancers	Fetal Intestine Large	intestine
18	chr8:119756400-119757400	Weak transcription	Fetal Kidney	kidney
19	chr8:119756400-119757600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:119756400-119757800	Enhancers	HSMMtube	muscle
21	chr8:119756400-119758200	Weak transcription	Fetal Lung	lung
22	chr8:119756400-119760000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:119756600-119757000	Weak transcription	Fetal Intestine Small	intestine

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