Variant report

Variant	rs73288439
Chromosome Location	chr17:17324225-17324226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17323540-17324388	U87	brain:	n/a	n/a
2	POLR2A	chr17:17323869-17324393	U87	brain:	n/a	n/a
3	JUND	chr17:17324137-17324299	K562	blood:	n/a	n/a
4	UBTF	chr17:17324087-17324408	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17323645..17325361-chr17:17339131..17341105,2	MCF-7	breast:
2	chr17:17321553..17324468-chr17:17587073..17589435,2	MCF-7	breast:
3	chr17:17321962..17324766-chr17:17326555..17329436,3	K562	blood:

Variant related genes	Relation type
ENSG00000227158	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1997195	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56863923	0.83[ASN][1000 genomes]
rs59206606	0.83[ASN][1000 genomes]
rs61172106	0.96[EUR][1000 genomes]
rs7215537	0.83[ASN][1000 genomes]
rs73288430	1.00[EUR][1000 genomes]
rs73981949	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899041	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv515800	chr17:17322196-17344653	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17317000-17327200	Enhancers	Fetal Muscle Leg	muscle
2	chr17:17317200-17324400	Enhancers	Left Ventricle	heart
3	chr17:17318400-17324600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:17318800-17324400	Enhancers	HepG2	liver
5	chr17:17319200-17325000	Enhancers	K562	blood
6	chr17:17319400-17324600	Enhancers	Right Ventricle	heart
7	chr17:17319600-17324400	Enhancers	Right Atrium	heart
8	chr17:17321200-17324600	Enhancers	NHDF-Ad	bronchial
9	chr17:17321400-17324600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr17:17321600-17325000	Enhancers	Placenta	Placenta
11	chr17:17321800-17324600	Enhancers	NHLF	lung
12	chr17:17322000-17324400	Enhancers	Lung	lung
13	chr17:17322000-17324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:17322000-17326800	Enhancers	Fetal Muscle Trunk	muscle
15	chr17:17322600-17327200	Weak transcription	Thymus	Thymus
16	chr17:17322800-17324600	Enhancers	Osteobl	bone
17	chr17:17323000-17324800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr17:17323200-17324600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:17323200-17324600	Enhancers	Spleen	Spleen
20	chr17:17323400-17324400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:17323600-17324400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:17323600-17324600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:17323600-17324600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr17:17323600-17324800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr17:17323800-17324600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:17323800-17327600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr17:17324000-17324400	Enhancers	Esophagus	oesophagus
28	chr17:17324000-17324600	Enhancers	Adipose Nuclei	Adipose
29	chr17:17324000-17324800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:17324200-17324400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:17324200-17325000	Enhancers	Fetal Thymus	thymus

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