Variant report

Variant	rs8064839
Chromosome Location	chr17:19855597-19855598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19855161..19857669-chr17:19880581..19882702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56178618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57853272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58524683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59395638	1.00[AMR][1000 genomes]
rs59704385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215558	0.84[AFR][1000 genomes]
rs7221750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980725	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980764	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980785	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980787	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980789	0.94[AFR][1000 genomes]
rs73980794	0.97[AFR][1000 genomes]
rs73984562	0.85[AFR][1000 genomes]
rs8066256	0.91[AFR][1000 genomes]
rs8073950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8082216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19840000-19879200	Weak transcription	Fetal Brain Male	brain
2	chr17:19844600-19859200	Weak transcription	NHDF-Ad	bronchial
3	chr17:19844800-19859600	Weak transcription	HSMMtube	muscle
4	chr17:19844800-19861000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr17:19845200-19857200	Weak transcription	Fetal Kidney	kidney
6	chr17:19845400-19857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:19846800-19875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:19850600-19861000	Weak transcription	NH-A	brain
9	chr17:19850600-19861400	Weak transcription	Gastric	stomach
10	chr17:19850600-19861600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr17:19850600-19879200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr17:19850600-19880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:19850600-19880200	Weak transcription	Aorta	Aorta
14	chr17:19851600-19858600	Weak transcription	NHEK	skin
15	chr17:19851600-19859200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:19851600-19859200	Weak transcription	HSMM	muscle
17	chr17:19851600-19859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:19851600-19859800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:19851600-19871600	Weak transcription	Colonic Mucosa	Colon
20	chr17:19851800-19856000	Weak transcription	Fetal Lung	lung
21	chr17:19851800-19859200	Weak transcription	Osteobl	bone
22	chr17:19852000-19855800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:19852000-19856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:19852000-19857000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:19852000-19857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:19852000-19857200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:19852000-19861200	Weak transcription	NHLF	lung
28	chr17:19852000-19871000	Weak transcription	Small Intestine	intestine
29	chr17:19852200-19855600	Weak transcription	Pancreas	Pancrea
30	chr17:19852200-19856800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:19852200-19856800	Weak transcription	Adipose Nuclei	Adipose
32	chr17:19852200-19856800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr17:19852200-19856800	Weak transcription	Placenta	Placenta
34	chr17:19852200-19857000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:19852200-19857000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr17:19852200-19857000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:19852200-19857000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:19852200-19857000	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:19852200-19857000	Weak transcription	Lung	lung
40	chr17:19852200-19857000	Weak transcription	Thymus	Thymus
41	chr17:19852200-19857200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:19852200-19857200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr17:19852200-19858600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:19852200-19858800	Weak transcription	Liver	Liver
45	chr17:19852200-19859000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:19852200-19859400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:19852200-19859400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:19852200-19861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:19852200-19861000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:19852200-19861200	Weak transcription	Brain Hippocampus Middle	brain

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