Variant report

Variant	rs1569040
Chromosome Location	chr17:17306087-17306088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17304304..17307291-chr17:17324984..17326746,2	K562	blood:
2	chr17:17304591..17306249-chr17:17306462..17308766,2	MCF-7	breast:
3	chr17:17299943..17302220-chr17:17305018..17306768,2	K562	blood:
4	chr17:17305801..17308448-chr17:17312032..17314293,2	K562	blood:

Variant related genes	Relation type
ENSG00000227158	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1569042	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961654	0.92[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs16961656	0.83[ASN][1000 genomes]
rs2089461	0.81[ASN][1000 genomes]
rs34243760	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34389187	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34500456	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35815169	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56145552	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56668001	0.88[ASN][1000 genomes]
rs61246739	0.88[ASN][1000 genomes]
rs7211180	0.81[ASN][1000 genomes]
rs8069731	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8079827	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8080681	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	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
2	esv1010969	chr17:17304118-17308747	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17296600-17306200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:17297200-17306600	Enhancers	Dnd41	blood
3	chr17:17298600-17306800	Enhancers	Fetal Thymus	thymus
4	chr17:17299800-17310400	Enhancers	Primary hematopoietic stem cells	blood
5	chr17:17300200-17306800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:17300200-17306800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:17301400-17306400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:17301400-17307000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:17301400-17307000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr17:17301600-17306800	Enhancers	Thymus	Thymus
11	chr17:17302000-17318800	Weak transcription	Right Atrium	heart
12	chr17:17302200-17307400	Weak transcription	Brain Anterior Caudate	brain
13	chr17:17302400-17306600	Weak transcription	Fetal Lung	lung
14	chr17:17302400-17306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:17303200-17306800	Weak transcription	Lung	lung
16	chr17:17303200-17307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:17303600-17306800	Weak transcription	Adipose Nuclei	Adipose
18	chr17:17304200-17306800	Enhancers	Hela-S3	cervix
19	chr17:17304400-17306600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:17304400-17307000	Enhancers	Osteobl	bone
21	chr17:17304400-17307600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr17:17304600-17306600	Enhancers	HepG2	liver
23	chr17:17304600-17307600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:17304600-17307800	Enhancers	HSMM	muscle
25	chr17:17304800-17306200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:17304800-17306600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr17:17304800-17307800	Enhancers	HSMMtube	muscle
28	chr17:17305000-17306800	Weak transcription	Spleen	Spleen
29	chr17:17305000-17307000	Enhancers	Brain Germinal Matrix	brain
30	chr17:17305000-17308000	Enhancers	HUVEC	blood vessel
31	chr17:17305000-17311400	Weak transcription	Pancreas	Pancrea
32	chr17:17305200-17306600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:17305200-17306600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:17305200-17307400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr17:17305200-17309600	Weak transcription	Esophagus	oesophagus
36	chr17:17305600-17306800	Enhancers	Primary T cells from cord blood	blood
37	chr17:17305600-17306800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr17:17305600-17306800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr17:17305600-17306800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr17:17305600-17307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:17305800-17306200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:17305800-17306200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:17305800-17306400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:17305800-17306600	Enhancers	NH-A	brain
45	chr17:17305800-17306800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:17305800-17306800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:17305800-17306800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr17:17305800-17307000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr17:17305800-17308000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:17305800-17309200	Enhancers	Primary B cells from peripheral blood	blood

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