Variant report

Variant	rs8066187
Chromosome Location	chr17:17467017-17467018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17382779..17384449-chr17:17466823..17468946,2	MCF-7	breast:
2	chr17:17397512..17403253-chr17:17463031..17468284,9	MCF-7	breast:
3	chr17:17460442..17462170-chr17:17466315..17469039,2	MCF-7	breast:
4	chr17:17441533..17443885-chr17:17465004..17467167,2	K562	blood:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs3760186	0.93[ASN][1000 genomes]
rs4646353	0.96[ASN][1000 genomes]
rs4646360	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646361	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646362	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646363	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646364	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646373	0.96[ASN][1000 genomes]
rs4646374	0.96[ASN][1000 genomes]
rs4646375	0.96[ASN][1000 genomes]
rs4646378	0.96[ASN][1000 genomes]
rs4646382	0.96[ASN][1000 genomes]
rs4646384	0.96[ASN][1000 genomes]
rs56046764	0.96[ASN][1000 genomes]
rs58874056	1.00[ASN][1000 genomes]
rs58990997	0.90[ASN][1000 genomes]
rs7210045	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73298562	0.86[EUR][1000 genomes]
rs73298588	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73298590	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300558	0.86[EUR][1000 genomes]
rs73300565	1.00[ASN][1000 genomes]
rs73978972	0.83[ASN][1000 genomes]
rs73978975	0.96[ASN][1000 genomes]
rs8065788	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068641	0.96[ASN][1000 genomes]
rs8076828	0.96[ASN][1000 genomes]
rs9902188	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	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
6	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
2	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:17444200-17467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:17444400-17469200	Weak transcription	Fetal Brain Female	brain
5	chr17:17445200-17468400	Weak transcription	Thymus	Thymus
6	chr17:17445200-17473200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:17450800-17467800	Weak transcription	Brain Germinal Matrix	brain
8	chr17:17451000-17468400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:17453200-17468200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:17453400-17477800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:17454800-17469800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:17455000-17468600	Weak transcription	Brain Substantia Nigra	brain
13	chr17:17455200-17468000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:17455200-17468000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:17455200-17469200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:17455200-17471800	Weak transcription	HepG2	liver
17	chr17:17456200-17468000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:17460600-17469200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr17:17461000-17474000	Enhancers	Liver	Liver
20	chr17:17461200-17468400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:17461600-17468600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:17462600-17468200	Enhancers	Gastric	stomach
23	chr17:17463400-17469000	Enhancers	Stomach Mucosa	stomach
24	chr17:17463600-17468000	Weak transcription	Psoas Muscle	Psoas
25	chr17:17463600-17468600	Weak transcription	Left Ventricle	heart
26	chr17:17464200-17472200	Enhancers	Lung	lung
27	chr17:17464200-17477800	Weak transcription	Dnd41	blood
28	chr17:17464600-17473200	Enhancers	Fetal Heart	heart
29	chr17:17464800-17474800	Enhancers	Fetal Muscle Leg	muscle
30	chr17:17465000-17468000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:17465600-17469400	Weak transcription	Brain Hippocampus Middle	brain
32	chr17:17465600-17473000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr17:17465800-17467400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:17465800-17468000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:17465800-17468000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr17:17465800-17468400	Weak transcription	Right Atrium	heart
38	chr17:17465800-17468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:17465800-17468800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:17465800-17468800	Weak transcription	Spleen	Spleen
41	chr17:17465800-17469000	Weak transcription	Brain Anterior Caudate	brain
42	chr17:17465800-17469000	Weak transcription	Osteobl	bone
43	chr17:17465800-17469600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:17465800-17469600	Weak transcription	Pancreas	Pancrea
45	chr17:17465800-17470400	Weak transcription	Brain Angular Gyrus	brain
46	chr17:17465800-17470400	Weak transcription	HSMMtube	muscle
47	chr17:17465800-17474800	Enhancers	Adipose Nuclei	Adipose
48	chr17:17465800-17478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:17465800-17478000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:17465800-17478000	Weak transcription	Monocytes-CD14+_RO01746	blood

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