Variant report

Variant	rs8071007
Chromosome Location	chr17:17506892-17506893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17504788..17507617-chr17:17507933..17511069,3	K562	blood:
2	chr17:17495233..17498168-chr17:17505537..17510752,5	MCF-7	breast:
3	chr17:17490848..17493692-chr17:17505385..17507951,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11651957	0.98[EUR][1000 genomes]
rs11659047	0.87[EUR][1000 genomes]
rs28454257	0.95[EUR][1000 genomes]
rs28583584	0.87[EUR][1000 genomes]
rs28652618	0.87[EUR][1000 genomes]
rs28715719	0.95[EUR][1000 genomes]
rs28884183	0.95[EUR][1000 genomes]
rs56030759	0.85[EUR][1000 genomes]
rs56044345	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56177028	0.95[EUR][1000 genomes]
rs56327101	0.95[EUR][1000 genomes]
rs57638011	0.95[EUR][1000 genomes]
rs62066215	0.85[EUR][1000 genomes]
rs62066216	0.81[EUR][1000 genomes]
rs7214988	0.87[EUR][1000 genomes]
rs7217764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219568	0.95[EUR][1000 genomes]
rs7222759	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7224725	0.87[EUR][1000 genomes]
rs73978990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8070432	0.83[EUR][1000 genomes]
rs8074981	0.95[EUR][1000 genomes]
rs8076601	0.95[EUR][1000 genomes]
rs8077671	0.95[EUR][1000 genomes]
rs9896285	0.95[EUR][1000 genomes]
rs9904004	0.81[EUR][1000 genomes]
rs9910151	0.93[EUR][1000 genomes]
rs9911823	0.95[EUR][1000 genomes]
rs9914118	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9944423	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17496200-17508600	Weak transcription	Fetal Intestine Small	intestine
2	chr17:17496400-17508200	Weak transcription	Right Atrium	heart
3	chr17:17496400-17508600	Weak transcription	HSMMtube	muscle
4	chr17:17496600-17508600	Weak transcription	Fetal Stomach	stomach
5	chr17:17496600-17508800	Weak transcription	Osteobl	bone
6	chr17:17497000-17508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:17503800-17507000	Weak transcription	K562	blood
8	chr17:17506400-17507000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:17506400-17507000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:17506400-17507200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:17506400-17507200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:17506400-17507200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr17:17506400-17507200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:17506400-17507600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:17506400-17507600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:17506600-17507000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:17506600-17507200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr17:17506600-17507200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr17:17506600-17507200	Flanking Active TSS	HepG2	liver
20	chr17:17506600-17507400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17506600-17507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr17:17506600-17507600	Enhancers	Fetal Heart	heart
23	chr17:17506800-17507000	Weak transcription	Fetal Lung	lung
24	chr17:17506800-17507200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:17506800-17507400	Enhancers	Thymus	Thymus
26	chr17:17506800-17507600	Enhancers	Fetal Thymus	thymus

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