Variant report

Variant	rs56863923
Chromosome Location	chr17:17317107-17317108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17308878..17311513-chr17:17316490..17320191,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1997195	0.81[ASN][1000 genomes]
rs59206606	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208538	1.00[EUR][1000 genomes]
rs7215472	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7215537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286497	0.95[AFR][1000 genomes]
rs73288417	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73288439	0.83[ASN][1000 genomes]
rs9899041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058849	chr17:17308009-17348548	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1058804	chr17:17308984-17348548	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1062207	chr17:17310099-17344599	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv543234	chr17:17310099-17344599	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv574523	chr17:17310886-17347995	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1056137	chr17:17311017-17348939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv543235	chr17:17311017-17348939	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17302000-17318800	Weak transcription	Right Atrium	heart
2	chr17:17308000-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:17310400-17317200	Weak transcription	Lung	lung
4	chr17:17311000-17317800	Weak transcription	Fetal Brain Female	brain
5	chr17:17312400-17317200	Weak transcription	NHLF	lung
6	chr17:17312400-17318800	Weak transcription	HepG2	liver
7	chr17:17313200-17319400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:17313400-17317200	Weak transcription	Pancreas	Pancrea
9	chr17:17313600-17319200	Weak transcription	K562	blood
10	chr17:17313800-17317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:17313800-17317400	Weak transcription	Fetal Brain Male	brain
12	chr17:17314000-17317200	Weak transcription	Thymus	Thymus
13	chr17:17315000-17317200	Enhancers	Osteobl	bone
14	chr17:17315000-17317400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:17315200-17317400	Enhancers	NHDF-Ad	bronchial
16	chr17:17315200-17320600	Enhancers	Dnd41	blood
17	chr17:17315400-17317200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:17315400-17317200	Enhancers	NH-A	brain
19	chr17:17315400-17319600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:17315400-17322800	Enhancers	Fetal Thymus	thymus
21	chr17:17315600-17317200	Weak transcription	HSMM	muscle
22	chr17:17315600-17319600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:17315800-17317200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:17315800-17317200	Enhancers	Adipose Nuclei	Adipose
25	chr17:17316400-17317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:17316400-17317200	Enhancers	Brain Germinal Matrix	brain
27	chr17:17316400-17317800	Flanking Active TSS	HMEC	breast
28	chr17:17316400-17318400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:17316400-17319000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr17:17316600-17317600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:17316600-17317600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:17316800-17317400	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr17:17316800-17321000	Enhancers	Brain Substantia Nigra	brain
34	chr17:17317000-17317200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:17317000-17317200	Enhancers	Brain Anterior Caudate	brain
36	chr17:17317000-17317200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr17:17317000-17317200	Flanking Active TSS	Hela-S3	cervix
38	chr17:17317000-17317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:17317000-17317400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:17317000-17317400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:17317000-17317600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr17:17317000-17318000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:17317000-17318000	Flanking Active TSS	NHEK	skin
44	chr17:17317000-17318400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr17:17317000-17318800	Weak transcription	HUVEC	blood vessel
46	chr17:17317000-17327200	Enhancers	Fetal Muscle Leg	muscle

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