Variant report

Variant	rs58762975
Chromosome Location	chr13:53037369-53037370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53028078..53032210-chr13:53033257..53037371,7	MCF-7	breast:
2	chr13:53033923..53036375-chr13:53036479..53039026,2	K562	blood:
3	chr13:53023268..53024993-chr13:53036223..53037805,2	K562	blood:
4	chr13:53028437..53031051-chr13:53036897..53040405,3	MCF-7	breast:
5	chr13:53035263..53041747-chr13:53043421..53048270,6	K562	blood:
6	chr13:53034739..53038447-chr13:53039311..53042950,6	K562	blood:

Variant related genes	Relation type
ENSG00000136100	Chromatin interaction
ENSG00000136108	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55796806	0.88[AFR][1000 genomes]
rs56030033	0.88[AFR][1000 genomes]
rs57214011	1.00[AFR][1000 genomes]
rs57339165	0.88[AFR][1000 genomes]
rs57461595	0.88[AFR][1000 genomes]
rs60539260	0.82[AFR][1000 genomes]
rs61285838	0.88[AFR][1000 genomes]
rs74085735	0.88[AFR][1000 genomes]
rs74085783	0.88[AFR][1000 genomes]
rs74085795	1.00[AFR][1000 genomes]
rs74085799	1.00[AFR][1000 genomes]
rs74087098	0.81[AFR][1000 genomes]
rs74087304	1.00[AFR][1000 genomes]
rs74087311	0.88[AFR][1000 genomes]
rs74087342	0.88[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:122 , 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	chr13:53030400-53039200	Weak transcription	Psoas Muscle	Psoas
5	chr13:53030400-53048200	Weak transcription	Pancreas	Pancrea
6	chr13:53030400-53048400	Weak transcription	Ovary	ovary
7	chr13:53030400-53048600	Weak transcription	Aorta	Aorta
8	chr13:53030400-53050000	Weak transcription	Esophagus	oesophagus
9	chr13:53030400-53055800	Weak transcription	Lung	lung
10	chr13:53030600-53040800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:53030600-53044400	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:53030600-53044600	Weak transcription	Colonic Mucosa	Colon
13	chr13:53030600-53049600	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:53030600-53050200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:53030600-53050600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:53030600-53050800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:53030600-53050800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:53030600-53051400	Weak transcription	Fetal Brain Male	brain
19	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:53030800-53041200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:53030800-53042600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:53031000-53041000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr13:53031000-53042600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:53031000-53043000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr13:53031000-53049200	Weak transcription	Fetal Brain Female	brain
27	chr13:53031000-53050800	Weak transcription	Stomach Mucosa	stomach
28	chr13:53031000-53051200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr13:53031000-53051400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:53031200-53043600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr13:53031200-53044600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:53031400-53037800	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:53031400-53038400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr13:53031400-53040400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:53031600-53044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:53031800-53043600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:53032400-53043600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:53032600-53052200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr13:53033200-53043800	Strong transcription	Fetal Intestine Large	intestine
40	chr13:53033400-53037600	Strong transcription	Fetal Stomach	stomach
41	chr13:53033600-53038000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr13:53033600-53042600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:53033800-53039400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr13:53033800-53051600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr13:53034000-53038200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:53034200-53040800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr13:53034200-53050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:53034200-53052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:53034400-53050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:53034400-53054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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