Variant report

Variant	rs9596654
Chromosome Location	chr13:53023486-53023487
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	chr13:53023259..53027625-chr13:53027753..53030727,5	MCF-7	breast:
2	chr13:53023126..53025517-chr17:56734157..56736833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000136108	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9316575	1.00[AFR][1000 genomes]
rs9596647	1.00[AFR][1000 genomes]
rs9596655	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52987200-53023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:52995200-53023800	Weak transcription	Aorta	Aorta
3	chr13:52995800-53023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:53008600-53023600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:53015400-53023600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:53019400-53023600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:53021600-53023600	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:53021600-53023600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr13:53021600-53023600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:53021600-53023600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr13:53021600-53023600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:53021600-53023600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:53021600-53023600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr13:53021600-53023600	Enhancers	Fetal Heart	heart
15	chr13:53021600-53023600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr13:53021600-53023600	Enhancers	HepG2	liver
17	chr13:53021600-53023800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr13:53022000-53023600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:53022000-53023600	Enhancers	Brain Substantia Nigra	brain
20	chr13:53022200-53023600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr13:53022200-53023600	Enhancers	Stomach Mucosa	stomach
22	chr13:53022200-53023600	Enhancers	K562	blood
23	chr13:53022200-53023800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:53022200-53023800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:53022200-53023800	Flanking Active TSS	HUVEC	blood vessel
26	chr13:53022200-53024000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:53022400-53023600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:53022400-53023600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:53022400-53023600	Enhancers	Primary B cells from cord blood	blood
30	chr13:53022400-53023600	Enhancers	Liver	Liver
31	chr13:53022400-53023600	Enhancers	Fetal Brain Male	brain
32	chr13:53022400-53023800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:53022600-53023600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:53022600-53023600	Enhancers	Fetal Lung	lung
35	chr13:53022600-53023600	Enhancers	Left Ventricle	heart
36	chr13:53022600-53023600	Weak transcription	Ovary	ovary
37	chr13:53022600-53023800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr13:53022600-53024000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:53022600-53025000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:53022800-53023800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr13:53022800-53023800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr13:53022800-53024000	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr13:53022800-53024800	Active TSS	Esophagus	oesophagus
44	chr13:53022800-53025000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:53022800-53025000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr13:53022800-53025000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:53022800-53025200	Active TSS	NHDF-Ad	bronchial
48	chr13:53023000-53023600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr13:53023000-53023600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr13:53023000-53023600	Weak transcription	Lung	lung

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