Variant report

Variant	rs8070462
Chromosome Location	chr17:17849999-17850000
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	chr17:17842655..17844520-chr17:17849139..17852302,3	MCF-7	breast:
2	chr17:17738592..17740935-chr17:17848692..17850364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56790053	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59948477	0.84[AFR][1000 genomes]
rs73301842	0.83[AFR][1000 genomes]
rs73301851	0.88[AFR][1000 genomes]
rs73301854	0.88[AFR][1000 genomes]
rs73301865	0.88[AFR][1000 genomes]
rs73301873	0.88[AFR][1000 genomes]
rs73301880	0.88[AFR][1000 genomes]
rs73303830	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303831	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303840	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
2	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:17836400-17853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:17839400-17858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:17839400-17860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:17839800-17859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:17844800-17859800	Weak transcription	Colonic Mucosa	Colon
8	chr17:17844800-17861400	Weak transcription	Liver	Liver
9	chr17:17847000-17850800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr17:17847000-17858000	Weak transcription	Adipose Nuclei	Adipose
11	chr17:17847000-17860200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:17847200-17850400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:17847200-17854000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:17847200-17861400	Weak transcription	Fetal Kidney	kidney
15	chr17:17847400-17850400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:17847400-17850600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:17847400-17851000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr17:17847400-17852400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:17847400-17856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:17847400-17856800	Weak transcription	Thymus	Thymus
21	chr17:17847400-17859800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:17847400-17860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:17847400-17860600	Weak transcription	K562	blood
24	chr17:17847400-17861600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:17847400-17864000	Weak transcription	Aorta	Aorta
26	chr17:17847600-17850800	Weak transcription	HMEC	breast
27	chr17:17847600-17850800	Weak transcription	HUVEC	blood vessel
28	chr17:17847600-17851400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:17847600-17851400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:17847600-17851600	Weak transcription	Pancreas	Pancrea
31	chr17:17847600-17852000	Weak transcription	Right Atrium	heart
32	chr17:17847600-17852000	Weak transcription	Spleen	Spleen
33	chr17:17847600-17852200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:17847600-17854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:17847600-17855200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:17847600-17856000	Weak transcription	Primary T cells from cord blood	blood
37	chr17:17847600-17856000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr17:17847600-17857000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr17:17847600-17860200	Weak transcription	Hela-S3	cervix
40	chr17:17847800-17850400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:17847800-17850400	Weak transcription	Esophagus	oesophagus
42	chr17:17847800-17850400	Weak transcription	NHEK	skin
43	chr17:17847800-17851000	Weak transcription	NH-A	brain
44	chr17:17847800-17851600	Weak transcription	Gastric	stomach
45	chr17:17847800-17854000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:17847800-17856200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:17847800-17856600	Weak transcription	Fetal Thymus	thymus
48	chr17:17848000-17850200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:17848200-17850600	Weak transcription	NHDF-Ad	bronchial
50	chr17:17848200-17851000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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