Variant report

Variant	esv3384430
Chromosome Location	chr13:53040027-53040201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000136100	chromatin interactions
ENSG00000136108	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538659637	chr13:53040036-53040037	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139530789	chr13:53040041-53040042	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551334949	chr13:53040049-53040050	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563549356	chr13:53040055-53040056	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373964005	chr13:53040056-53040057	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs61959702	chr13:53040070-53040071	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs540065036	chr13:53040072-53040073	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140607775	chr13:53040077-53040078	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs58693527	chr13:53040078-53040079	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs61959703	chr13:53040083-53040084	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs61959704	chr13:53040090-53040091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77696904	chr13:53040091-53040092	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376323741	chr13:53040095-53040096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182207448	chr13:53040100-53040101	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs5022233	chr13:53040101-53040102	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs188186417	chr13:53040102-53040103	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs151220880	chr13:53040103-53040104	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200672960	chr13:53040108-53040109	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536636254	chr13:53040113-53040114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61959705	chr13:53040114-53040115	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574336603	chr13:53040132-53040133	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536938750	chr13:53040133-53040134	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150301837	chr13:53040140-53040141	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576333943	chr13:53040146-53040147	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545355079	chr13:53040152-53040153	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550084175	chr13:53040154-53040155	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565149570	chr13:53040164-53040165	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572461251	chr13:53040169-53040170	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559294434	chr13:53040174-53040175	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs140121238	chr13:53040176-53040177	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561459105	chr13:53040185-53040186	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572947230	chr13:53040187-53040188	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

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	chr13:53030400-53048200	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

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