Variant report

Variant	rs551334949
Chromosome Location	chr13:53040049-53040050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53024598..53026541-chr13:53038794..53041204,2	K562	blood:
2	chr13:53038170..53040803-chr13:53042375..53044439,2	MCF-7	breast:
3	chr13:53028437..53031051-chr13:53036897..53040405,3	MCF-7	breast:
4	chr13:53035263..53041747-chr13:53043421..53048270,6	K562	blood:
5	chr13:53034739..53038447-chr13:53039311..53042950,6	K562	blood:

Variant related genes	Relation type
ENSG00000136108	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	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	esv3384430	chr13:53040027-53040201	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 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	chr13:53030400-53048200	Weak transcription	Pancreas	Pancrea
5	chr13:53030400-53048400	Weak transcription	Ovary	ovary
6	chr13:53030400-53048600	Weak transcription	Aorta	Aorta
7	chr13:53030400-53050000	Weak transcription	Esophagus	oesophagus
8	chr13:53030400-53055800	Weak transcription	Lung	lung
9	chr13:53030600-53040800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr13:53030600-53044400	Weak transcription	Colon Smooth Muscle	Colon
11	chr13:53030600-53044600	Weak transcription	Colonic Mucosa	Colon
12	chr13:53030600-53049600	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:53030600-53050200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:53030600-53050600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:53030600-53050800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:53030600-53050800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:53030600-53051400	Weak transcription	Fetal Brain Male	brain
18	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:53030800-53041200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:53030800-53042600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr13:53031000-53041000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr13:53031000-53042600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:53031000-53043000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr13:53031000-53049200	Weak transcription	Fetal Brain Female	brain
26	chr13:53031000-53050800	Weak transcription	Stomach Mucosa	stomach
27	chr13:53031000-53051200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr13:53031000-53051400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:53031200-53043600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:53031200-53044600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:53031400-53040400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:53031600-53044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr13:53031800-53043600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:53032400-53043600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:53032600-53052200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr13:53033200-53043800	Strong transcription	Fetal Intestine Large	intestine
37	chr13:53033600-53042600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:53033800-53051600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr13:53034200-53040800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr13:53034200-53050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:53034200-53052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:53034400-53050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:53034400-53054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:53034800-53040400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:53034800-53040800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:53034800-53041400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr13:53035000-53040800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr13:53035000-53041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:53035000-53041000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr13:53035000-53043400	Strong transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links