Variant report

Variant	rs16891444
Chromosome Location	chr8:119761118-119761119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55967834	1.00[AMR][1000 genomes]
rs59654179	1.00[AMR][1000 genomes]
rs61317133	1.00[AMR][1000 genomes]
rs73711924	1.00[AMR][1000 genomes]
rs73711925	1.00[AMR][1000 genomes]
rs73711932	1.00[AMR][1000 genomes]
rs73711933	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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	chr8:119755200-119761400	Enhancers	Osteobl	bone
3	chr8:119755400-119762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:119756200-119761800	Enhancers	Fetal Intestine Large	intestine
5	chr8:119756800-119776400	Weak transcription	Aorta	Aorta
6	chr8:119757200-119763600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:119757600-119761200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:119759600-119761200	Enhancers	Fetal Intestine Small	intestine
9	chr8:119759600-119762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:119760000-119761400	Enhancers	NHLF	lung
11	chr8:119760200-119761600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:119760400-119764600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:119760600-119761400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:119760800-119761200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:119760800-119761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119760800-119761200	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:119760800-119761400	Enhancers	HSMM	muscle
18	chr8:119760800-119761600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:119760800-119761600	Enhancers	Adipose Nuclei	Adipose
20	chr8:119760800-119761600	Enhancers	HSMMtube	muscle
21	chr8:119761000-119761200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:119761000-119761200	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr8:119761000-119763200	Weak transcription	Rectal Mucosa Donor 31	rectum

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