Variant report

Variant	rs140580572
Chromosome Location	chr17:46505561-46505562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46505363..46507156-chr17:46658355..46659859,2	K562	blood:
2	chr17:46503757..46506567-chr17:46674757..46677231,2	K562	blood:

Variant related genes	Relation type
ENSG00000257178	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	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	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46503200-46507000	Enhancers	Primary hematopoietic stem cells	blood
2	chr17:46503400-46505600	Enhancers	Primary B cells from cord blood	blood
3	chr17:46503400-46506400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:46503600-46505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46503600-46506000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:46503600-46506600	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:46503600-46506600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr17:46503600-46506600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46503800-46506400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:46503800-46507600	Active TSS	Primary T cells fromperipheralblood	blood
11	chr17:46504000-46506000	Enhancers	K562	blood
12	chr17:46504200-46505600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr17:46504600-46505600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr17:46504600-46505800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr17:46504600-46506000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:46504800-46505600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:46505000-46506600	Active TSS	GM12878-XiMat	blood
18	chr17:46505000-46507200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:46505000-46507600	Active TSS	Thymus	Thymus
20	chr17:46505000-46508000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr17:46505200-46506000	Enhancers	Fetal Kidney	kidney
22	chr17:46505200-46506200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr17:46505200-46506400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:46505200-46506600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:46505400-46505600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:46505400-46506400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr17:46505400-46506400	Active TSS	Fetal Thymus	thymus
28	chr17:46505400-46507000	Bivalent Enhancer	Fetal Lung	lung
29	chr17:46505400-46507600	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr17:46505400-46507800	Active TSS	Primary T helper cells PMA-I stimulated	--

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