Variant report

Variant	rs56030033
Chromosome Location	chr13:53050765-53050766
allele	A/C
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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55906444	0.88[AFR][1000 genomes]
rs57214011	0.88[AFR][1000 genomes]
rs58762975	0.88[AFR][1000 genomes]
rs74085722	0.81[AFR][1000 genomes]
rs74085795	0.88[AFR][1000 genomes]
rs74085799	0.88[AFR][1000 genomes]
rs74087304	0.88[AFR][1000 genomes]
rs74087311	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	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53030200-53050800	Weak transcription	Gastric	stomach
2	chr13:53030200-53052600	Weak transcription	Spleen	Spleen
3	chr13:53030200-53053800	Weak transcription	Small Intestine	intestine
4	chr13:53030400-53055800	Weak transcription	Lung	lung
5	chr13:53030600-53050800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:53030600-53050800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:53030600-53051400	Weak transcription	Fetal Brain Male	brain
8	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr13:53031000-53050800	Weak transcription	Stomach Mucosa	stomach
11	chr13:53031000-53051200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:53031000-53051400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:53032600-53052200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr13:53033800-53051600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr13:53034200-53050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:53034200-53052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:53034400-53054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:53035000-53051400	Strong transcription	Osteobl	bone
19	chr13:53036000-53050800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr13:53036000-53052600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:53036200-53051200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:53036800-53053000	Weak transcription	Brain Germinal Matrix	brain
23	chr13:53037000-53051400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:53037600-53052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr13:53038000-53053200	Weak transcription	Brain Angular Gyrus	brain
26	chr13:53038200-53051200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:53038200-53051800	Strong transcription	Dnd41	blood
28	chr13:53038200-53055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:53039200-53051600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:53039800-53052800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:53041000-53051400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:53041000-53052000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:53041200-53051400	Weak transcription	NHLF	lung
34	chr13:53041200-53052200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:53041200-53053200	Weak transcription	Fetal Stomach	stomach
36	chr13:53041400-53052600	Weak transcription	Placenta	Placenta
37	chr13:53042800-53054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:53043000-53052800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:53043200-53052400	Weak transcription	Fetal Heart	heart
40	chr13:53043600-53051400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:53043600-53052800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:53044400-53051400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr13:53044600-53051800	Strong transcription	HMEC	breast
44	chr13:53044800-53051200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr13:53045200-53051200	Strong transcription	Primary B cells from cord blood	blood
46	chr13:53045400-53051600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:53045400-53051600	Strong transcription	Fetal Intestine Large	intestine
48	chr13:53045600-53051000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr13:53045600-53051400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:53045600-53051800	Strong transcription	NH-A	brain

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