Variant report

Variant	rs17091565
Chromosome Location	chr8:19712579-19712580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19709783..19712662-chr8:19713981..19716108,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58394366	1.00[AMR][1000 genomes]
rs61430440	1.00[AMR][1000 genomes]
rs73594434	1.00[AMR][1000 genomes]
rs73594436	1.00[AMR][1000 genomes]
rs73594443	1.00[AMR][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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv890631	chr8:19712564-19756813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19700000-19714000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:19701800-19719400	Weak transcription	Fetal Heart	heart
3	chr8:19702800-19713600	Weak transcription	Small Intestine	intestine
4	chr8:19703200-19713400	Weak transcription	Fetal Lung	lung
5	chr8:19703400-19713800	Weak transcription	Fetal Kidney	kidney
6	chr8:19705600-19713200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:19705600-19713400	Weak transcription	Psoas Muscle	Psoas
8	chr8:19705600-19714200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:19706000-19714800	Weak transcription	HMEC	breast
10	chr8:19706200-19713400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:19706600-19714400	Weak transcription	HUVEC	blood vessel
12	chr8:19706600-19715000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:19706800-19713200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:19706800-19713400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:19706800-19715400	Weak transcription	HepG2	liver
16	chr8:19707000-19713400	Weak transcription	Primary B cells from cord blood	blood
17	chr8:19707000-19714200	Weak transcription	NHDF-Ad	bronchial
18	chr8:19707800-19712600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:19707800-19713000	Weak transcription	Osteobl	bone
20	chr8:19708400-19712800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:19709200-19712600	Weak transcription	Right Ventricle	heart
22	chr8:19709200-19712800	Weak transcription	Esophagus	oesophagus
23	chr8:19709400-19713000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:19709400-19714800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:19709400-19715200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:19709600-19714200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:19710200-19713600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:19710200-19714600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:19710400-19712600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:19710400-19712600	Weak transcription	Liver	Liver
31	chr8:19710400-19712600	Weak transcription	Gastric	stomach
32	chr8:19710400-19712600	Weak transcription	Spleen	Spleen
33	chr8:19710400-19713000	Weak transcription	Placenta	Placenta
34	chr8:19710400-19713000	Weak transcription	GM12878-XiMat	blood
35	chr8:19710400-19713200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:19710400-19713200	Weak transcription	Aorta	Aorta
37	chr8:19710400-19713200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:19710400-19713400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:19710400-19713400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:19710400-19713600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:19710400-19713800	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:19710400-19714000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:19710400-19714200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:19710400-19715000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:19710400-19715000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:19710400-19715000	Weak transcription	Fetal Thymus	thymus
47	chr8:19710400-19715400	Weak transcription	Pancreas	Pancrea
48	chr8:19710400-19719600	Weak transcription	Adipose Nuclei	Adipose
49	chr8:19710600-19712600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:19710600-19713000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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