Variant report

Variant	rs546613123
Chromosome Location	chr13:53052707-53052708
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53049275..53051586-chr13:53052175..53054640,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv900086	chr13:53030565-53208030	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv976117	chr13:53051476-53058376	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2421964	chr13:53051526-53160234	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53030200-53053800	Weak transcription	Small Intestine	intestine
2	chr13:53030400-53055800	Weak transcription	Lung	lung
3	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:53034400-53054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:53036800-53053000	Weak transcription	Brain Germinal Matrix	brain
6	chr13:53038000-53053200	Weak transcription	Brain Angular Gyrus	brain
7	chr13:53038200-53055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:53039800-53052800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:53041200-53053200	Weak transcription	Fetal Stomach	stomach
10	chr13:53042800-53054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:53043000-53052800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:53043600-53052800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr13:53047200-53052800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:53047200-53053000	Weak transcription	Thymus	Thymus
15	chr13:53048600-53053200	Weak transcription	Fetal Intestine Small	intestine
16	chr13:53049400-53053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:53049400-53054000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:53049600-53053000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:53049600-53054000	Weak transcription	Liver	Liver
20	chr13:53049800-53052800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:53050000-53052800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:53050000-53053000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:53050000-53053200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:53050000-53053400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:53050000-53055400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:53050000-53058800	Weak transcription	HepG2	liver
27	chr13:53050200-53052800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr13:53050200-53052800	Weak transcription	NHDF-Ad	bronchial
29	chr13:53051000-53053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:53051000-53053600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:53051000-53055400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:53051200-53052800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:53051200-53052800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr13:53051200-53052800	Weak transcription	Primary B cells from cord blood	blood
35	chr13:53051200-53052800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:53051200-53052800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:53051200-53052800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:53051200-53053400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:53051400-53053000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:53051400-53053000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:53051400-53053000	Weak transcription	Primary T cells from cord blood	blood
42	chr13:53051400-53053000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:53051400-53053000	Weak transcription	Fetal Brain Female	brain
44	chr13:53051400-53053000	Weak transcription	HUVEC	blood vessel
45	chr13:53051400-53053000	Weak transcription	NHEK	skin
46	chr13:53051400-53053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:53051400-53054800	Weak transcription	Osteobl	bone
48	chr13:53051400-53055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:53051400-53055400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:53051400-53055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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