Variant report

Variant	esv3510707
Chromosome Location	chr13:53043703-53044037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53043306..53045600-chr13:53047199..53049509,2	MCF-7	breast:
2	chr13:53028362..53031002-chr13:53041307..53043821,2	MCF-7	breast:
3	chr13:53038170..53040803-chr13:53042375..53044439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136108	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200862968	chr13:53043724-53043725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561800668	chr13:53043728-53043729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58530254	chr13:53043732-53043733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568648231	chr13:53043735-53043736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553814512	chr13:53043736-53043737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193026350	chr13:53043763-53043764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369416086	chr13:53043764-53043765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371839768	chr13:53043772-53043773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4603430	chr13:53043773-53043774	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572637678	chr13:53043792-53043793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541246576	chr13:53043796-53043797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369085736	chr13:53043817-53043818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576911178	chr13:53043818-53043819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573798085	chr13:53043825-53043826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545905049	chr13:53043833-53043834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562471483	chr13:53043880-53043881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531331127	chr13:53043956-53043957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373304761	chr13:53043977-53043978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555019860	chr13:53043980-53043981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574946767	chr13:53043983-53043984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545328215	chr13:53044019-53044020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543938538	chr13:53044021-53044022	Weak transcription Strong transcription	Chromatin interactive region	1 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	chr13:53030600-53044400	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:53030600-53044600	Weak transcription	Colonic Mucosa	Colon
11	chr13:53030600-53049600	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:53030600-53050200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr13:53030600-53050600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:53030600-53050800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:53030600-53050800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr13:53030600-53051400	Weak transcription	Fetal Brain Male	brain
17	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:53031000-53049200	Weak transcription	Fetal Brain Female	brain
20	chr13:53031000-53050800	Weak transcription	Stomach Mucosa	stomach
21	chr13:53031000-53051200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:53031000-53051400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:53031200-53044600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:53031600-53044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:53032600-53052200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr13:53033200-53043800	Strong transcription	Fetal Intestine Large	intestine
27	chr13:53033800-53051600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr13:53034200-53050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:53034200-53052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:53034400-53050000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:53034400-53054400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:53035000-53051400	Strong transcription	Osteobl	bone
33	chr13:53035800-53048200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:53036000-53043800	Strong transcription	Fetal Thymus	thymus
35	chr13:53036000-53048200	Weak transcription	Left Ventricle	heart
36	chr13:53036000-53049600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr13:53036000-53050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:53036000-53050600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:53036000-53050800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr13:53036000-53052600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:53036200-53051200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:53036400-53046600	Weak transcription	Liver	Liver
43	chr13:53036800-53053000	Weak transcription	Brain Germinal Matrix	brain
44	chr13:53037000-53051400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:53037600-53052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr13:53037800-53046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:53037800-53047800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr13:53038000-53048000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr13:53038000-53053200	Weak transcription	Brain Angular Gyrus	brain
50	chr13:53038200-53049600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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