Variant report

Variant	rs540346675
Chromosome Location	chr2:113870708-113870709
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113858124..113860722-chr2:113869121..113871284,2	K562	blood:
2	chr2:113869175..113871959-chr2:113873300..113875521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv979338	chr2:113869830-113880320	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv874895	chr2:113870663-113875892	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868200-113871400	Weak transcription	Gastric	stomach
2	chr2:113868600-113870800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:113869200-113872400	Enhancers	Esophagus	oesophagus
5	chr2:113869400-113873000	Weak transcription	Stomach Mucosa	stomach
6	chr2:113869800-113871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113869800-113872400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:113869800-113873400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:113870000-113870800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr2:113870200-113870800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:113870200-113870800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:113870200-113870800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:113870200-113870800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:113870200-113870800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:113870200-113871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:113870200-113873000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:113870200-113873000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:113870200-113873200	Weak transcription	Spleen	Spleen
19	chr2:113870400-113870800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:113870400-113870800	Enhancers	K562	blood
21	chr2:113870400-113871400	Weak transcription	Placenta	Placenta
22	chr2:113870400-113871400	Weak transcription	NHEK	skin
23	chr2:113870400-113872800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:113870400-113873400	Enhancers	Monocytes-CD14+_RO01746	blood

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