Variant report

Variant	rs8071719
Chromosome Location	chr17:17280004-17280005
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	chr17:17279494..17281597-chr17:17286112..17288902,2	MCF-7	breast:
2	chr17:17278849..17281558-chr17:17290486..17292840,2	K562	blood:

Variant related genes	Relation type
ENSG00000215030	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4924939	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17274200-17282200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:17276800-17280200	Weak transcription	Lung	lung
3	chr17:17277200-17280600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:17278800-17280400	Enhancers	Right Atrium	heart
5	chr17:17279000-17281000	Enhancers	Adipose Nuclei	Adipose
6	chr17:17279200-17281400	Enhancers	Fetal Brain Male	brain
7	chr17:17279200-17281600	Enhancers	HepG2	liver
8	chr17:17279400-17280200	Enhancers	Fetal Brain Female	brain
9	chr17:17279400-17280200	Enhancers	Osteobl	bone
10	chr17:17279400-17280400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:17279400-17280600	Enhancers	Left Ventricle	heart
12	chr17:17279400-17280600	Enhancers	Right Ventricle	heart
13	chr17:17279400-17280800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:17279400-17280800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:17279400-17281400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:17279400-17282400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:17279600-17280400	Enhancers	Fetal Heart	heart
18	chr17:17279800-17280400	Bivalent Enhancer	NHDF-Ad	bronchial
19	chr17:17279800-17281000	Enhancers	Fetal Lung	lung
20	chr17:17279800-17281000	Enhancers	Fetal Muscle Leg	muscle
21	chr17:17279800-17281000	Enhancers	Placenta	Placenta
22	chr17:17280000-17280400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:17280000-17280400	Enhancers	Fetal Stomach	stomach
24	chr17:17280000-17281400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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