Variant report

Variant	rs116428261
Chromosome Location	chr17:46566985-46566986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46563248..46569374-chr17:46695616..46701359,7	K562	blood:
2	chr17:46566753..46569471-chr17:46581683..46584279,2	MCF-7	breast:
3	chr17:46563302..46565269-chr17:46565467..46567003,2	MCF-7	breast:

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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	esv1002528	chr17:46566180-46575960	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46561400-46569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:46561400-46569600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46561800-46567400	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:46562000-46567600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr17:46562000-46569800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:46562400-46567800	Weak transcription	GM12878-XiMat	blood
7	chr17:46563600-46569200	Enhancers	K562	blood
8	chr17:46564200-46567600	Weak transcription	Adipose Nuclei	Adipose
9	chr17:46564600-46569400	Weak transcription	A549	lung
10	chr17:46564600-46569800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:46564600-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:46564600-46569800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:46564800-46567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:46564800-46567600	Weak transcription	NHLF	lung
15	chr17:46564800-46569800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:46564800-46569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:46564800-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:46565000-46567600	Weak transcription	HSMMtube	muscle
19	chr17:46565000-46567800	Weak transcription	NH-A	brain
20	chr17:46565000-46569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:46565000-46569800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:46565000-46569800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr17:46565000-46569800	Weak transcription	NHDF-Ad	bronchial
24	chr17:46565600-46569800	Enhancers	Primary hematopoietic stem cells	blood
25	chr17:46566000-46567600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr17:46566000-46568000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:46566200-46567200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:46566200-46567600	Weak transcription	HSMM	muscle
29	chr17:46566200-46569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:46566400-46567400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:46566400-46567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:46566400-46567600	Weak transcription	NHEK	skin
33	chr17:46566400-46568200	Enhancers	Fetal Kidney	kidney
34	chr17:46566400-46569000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:46566400-46569000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:46566400-46569200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr17:46566400-46569800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr17:46566400-46569800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr17:46566400-46569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:46566400-46569800	Weak transcription	Gastric	stomach
41	chr17:46566400-46569800	Weak transcription	HMEC	breast
42	chr17:46566600-46567200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr17:46566600-46567400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:46566600-46567800	Weak transcription	Placenta	Placenta
45	chr17:46566600-46569000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr17:46566600-46569400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:46566600-46569400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:46566800-46567000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr17:46566800-46567400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr17:46566800-46567400	Enhancers	HUES64 Cell Line	embryonic stem cell

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