Variant report

Variant	rs565407987
Chromosome Location	chr13:30621359-30621360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30593860..30596414-chr13:30619534..30622191,2	MCF-7	breast:
2	chr13:30617504..30619162-chr13:30621081..30623948,2	MCF-7	breast:
3	chr13:30618914..30621589-chr13:30687239..30690336,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30612000-30625600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:30614800-30625800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:30618400-30621400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:30618600-30621800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:30619200-30622000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:30619400-30625600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:30619800-30621600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:30619800-30621600	Enhancers	NH-A	brain
9	chr13:30619800-30621800	Enhancers	NHDF-Ad	bronchial
10	chr13:30619800-30622200	Enhancers	HSMM	muscle
11	chr13:30619800-30622400	Enhancers	HSMMtube	muscle
12	chr13:30619800-30622400	Enhancers	Osteobl	bone
13	chr13:30620000-30622200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:30620000-30622200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:30620000-30622400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:30620200-30626600	Weak transcription	Stomach Mucosa	stomach
17	chr13:30620600-30623600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:30620800-30621600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr13:30620800-30622200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:30620800-30623800	Weak transcription	NHEK	skin
21	chr13:30620800-30625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:30621000-30622000	Enhancers	Liver	Liver
23	chr13:30621000-30622400	Enhancers	Primary T cells from cord blood	blood
24	chr13:30621000-30622400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:30621000-30623600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:30621200-30622000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr13:30621200-30622200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:30621200-30622400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:30621200-30622400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr13:30621200-30622600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr13:30621200-30623800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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