Variant report

Variant	rs115069387
Chromosome Location	chr13:53030926-53030927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:53344450..53346377-chr13:53029194..53030956,2	MCF-7	breast:
2	chr13:52989175..52991145-chr13:53028466..53031085,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111057	Chromatin interaction
ENSG00000265039	Chromatin interaction
ENSG00000136100	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3434605	chr13:52999509-53034851	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
8	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
9	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53028400-53031000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr13:53028400-53031600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:53028600-53031000	Active TSS	A549	lung
4	chr13:53028600-53033200	Active TSS	GM12878-XiMat	blood
5	chr13:53029800-53031000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:53030000-53031200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:53030200-53031000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:53030200-53031000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:53030200-53031000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr13:53030200-53031000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:53030200-53031200	Flanking Active TSS	NH-A	brain
12	chr13:53030200-53050800	Weak transcription	Gastric	stomach
13	chr13:53030200-53052600	Weak transcription	Spleen	Spleen
14	chr13:53030200-53053800	Weak transcription	Small Intestine	intestine
15	chr13:53030400-53031000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:53030400-53031000	Flanking Active TSS	HUVEC	blood vessel
17	chr13:53030400-53031000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr13:53030400-53031000	Flanking Active TSS	NHLF	lung
19	chr13:53030400-53031200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:53030400-53031200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:53030400-53031200	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr13:53030400-53031200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr13:53030400-53031200	Flanking Active TSS	NHEK	skin
24	chr13:53030400-53031400	Flanking Active TSS	Osteobl	bone
25	chr13:53030400-53031600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:53030400-53031600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr13:53030400-53031600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:53030400-53034200	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr13:53030400-53035200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:53030400-53035400	Weak transcription	Left Ventricle	heart
31	chr13:53030400-53035600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:53030400-53037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr13:53030400-53039200	Weak transcription	Psoas Muscle	Psoas
34	chr13:53030400-53048200	Weak transcription	Pancreas	Pancrea
35	chr13:53030400-53048400	Weak transcription	Ovary	ovary
36	chr13:53030400-53048600	Weak transcription	Aorta	Aorta
37	chr13:53030400-53050000	Weak transcription	Esophagus	oesophagus
38	chr13:53030400-53055800	Weak transcription	Lung	lung
39	chr13:53030600-53031000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr13:53030600-53031000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
41	chr13:53030600-53031000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
42	chr13:53030600-53031000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr13:53030600-53031000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr13:53030600-53031000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr13:53030600-53031000	Enhancers	Liver	Liver
46	chr13:53030600-53031000	Enhancers	Brain Anterior Caudate	brain
47	chr13:53030600-53031000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:53030600-53031000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:53030600-53031000	Weak transcription	Fetal Stomach	stomach
50	chr13:53030600-53031000	Enhancers	Stomach Mucosa	stomach

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