Variant report

Variant	rs548898772
Chromosome Location	chr13:53052206-53052207
allele	C/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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53030200-53052600	Weak transcription	Spleen	Spleen
2	chr13:53030200-53053800	Weak transcription	Small Intestine	intestine
3	chr13:53030400-53055800	Weak transcription	Lung	lung
4	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr13:53034400-53054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:53036000-53052600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:53036800-53053000	Weak transcription	Brain Germinal Matrix	brain
9	chr13:53038000-53053200	Weak transcription	Brain Angular Gyrus	brain
10	chr13:53038200-53055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:53039800-53052800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:53041200-53053200	Weak transcription	Fetal Stomach	stomach
13	chr13:53041400-53052600	Weak transcription	Placenta	Placenta
14	chr13:53042800-53054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:53043000-53052800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:53043200-53052400	Weak transcription	Fetal Heart	heart
17	chr13:53043600-53052800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:53047200-53052800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:53047200-53053000	Weak transcription	Thymus	Thymus
20	chr13:53048600-53053200	Weak transcription	Fetal Intestine Small	intestine
21	chr13:53049200-53052600	Weak transcription	GM12878-XiMat	blood
22	chr13:53049400-53053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:53049400-53054000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:53049600-53052400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:53049600-53053000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:53049600-53054000	Weak transcription	Liver	Liver
27	chr13:53049800-53052800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:53050000-53052400	Weak transcription	HSMMtube	muscle
29	chr13:53050000-53052600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr13:53050000-53052800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:53050000-53053000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:53050000-53053200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr13:53050000-53053400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:53050000-53055400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:53050000-53058800	Weak transcription	HepG2	liver
36	chr13:53050200-53052600	Weak transcription	Fetal Lung	lung
37	chr13:53050200-53052800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:53050200-53052800	Weak transcription	NHDF-Ad	bronchial
39	chr13:53050400-53052600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:53051000-53053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:53051000-53053600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:53051000-53055400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:53051200-53052800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr13:53051200-53052800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr13:53051200-53052800	Weak transcription	Primary B cells from cord blood	blood
46	chr13:53051200-53052800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr13:53051200-53052800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:53051200-53052800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:53051200-53053400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:53051400-53053000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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