Variant report

Variant	rs558289847
Chromosome Location	chr17:17305049-17305050
allele	C/G
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	chr17:17303519..17305319-chr17:17347425..17348955,2	MCF-7	breast:
5	chr17:17303349..17305790-chr17:17309231..17310797,2	MCF-7	breast:
6	chr17:17293918..17295696-chr17:17303965..17305764,2	K562	blood:

Variant related genes	Relation type
ENSG00000227158	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17296400-17305600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:17296600-17305600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:17296600-17305800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:17296600-17306200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:17297200-17306600	Enhancers	Dnd41	blood
6	chr17:17298600-17306800	Enhancers	Fetal Thymus	thymus
7	chr17:17299200-17305800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:17299800-17310400	Enhancers	Primary hematopoietic stem cells	blood
9	chr17:17300200-17306800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr17:17300200-17306800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:17301400-17306400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:17301400-17307000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:17301400-17307000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr17:17301600-17306800	Enhancers	Thymus	Thymus
15	chr17:17301800-17305800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:17302000-17318800	Weak transcription	Right Atrium	heart
17	chr17:17302200-17305600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr17:17302200-17307400	Weak transcription	Brain Anterior Caudate	brain
19	chr17:17302400-17305800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:17302400-17305800	Weak transcription	NH-A	brain
21	chr17:17302400-17306600	Weak transcription	Fetal Lung	lung
22	chr17:17302400-17306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:17302800-17305200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:17303000-17306000	Weak transcription	Primary B cells from cord blood	blood
25	chr17:17303200-17306800	Weak transcription	Lung	lung
26	chr17:17303200-17307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:17303600-17306800	Weak transcription	Adipose Nuclei	Adipose
28	chr17:17304000-17305600	Weak transcription	Primary T cells from cord blood	blood
29	chr17:17304200-17305200	Enhancers	Esophagus	oesophagus
30	chr17:17304200-17306000	Enhancers	NHDF-Ad	bronchial
31	chr17:17304200-17306800	Enhancers	Hela-S3	cervix
32	chr17:17304400-17305200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:17304400-17306600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:17304400-17307000	Enhancers	Osteobl	bone
35	chr17:17304400-17307600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr17:17304600-17305200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:17304600-17305200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:17304600-17305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:17304600-17305200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:17304600-17305200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr17:17304600-17305800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:17304600-17306000	Enhancers	HMEC	breast
43	chr17:17304600-17306600	Enhancers	HepG2	liver
44	chr17:17304600-17307600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:17304600-17307800	Enhancers	HSMM	muscle
46	chr17:17304800-17305200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:17304800-17305200	Enhancers	Left Ventricle	heart
48	chr17:17304800-17305800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:17304800-17305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:17304800-17306000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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