Variant report

Variant	esv3382990
Chromosome Location	chr13:96185012-96185533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560740593	chr13:96185036-96185037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9516599	chr13:96185041-96185042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572112891	chr13:96185045-96185046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534913373	chr13:96185046-96185047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57500288	chr13:96185068-96185069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368466061	chr13:96185069-96185070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9590299	chr13:96185075-96185076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12868726	chr13:96185101-96185102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576092920	chr13:96185150-96185151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577746558	chr13:96185151-96185152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74547406	chr13:96185230-96185231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563359028	chr13:96185237-96185238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112868985	chr13:96185307-96185308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541926665	chr13:96185309-96185310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561735088	chr13:96185316-96185317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527724463	chr13:96185326-96185327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547749579	chr13:96185329-96185330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143970689	chr13:96185352-96185353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188469788	chr13:96185413-96185414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147387715	chr13:96185416-96185417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372868492	chr13:96185468-96185469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12869017	chr13:96185472-96185473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570276263	chr13:96185476-96185477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398024038	chr13:96185482-96185483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546779256	chr13:96185485-96185486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562635046	chr13:96185502-96185503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96181200-96185800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:96182400-96185200	Enhancers	A549	lung
3	chr13:96182600-96186400	Weak transcription	NH-A	brain
4	chr13:96182600-96187600	Weak transcription	HSMMtube	muscle
5	chr13:96182800-96185800	Weak transcription	HepG2	liver
6	chr13:96182800-96186000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:96183000-96185800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:96183000-96186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:96183000-96186200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:96183000-96187000	Weak transcription	HMEC	breast
11	chr13:96183000-96187200	Weak transcription	Hela-S3	cervix
12	chr13:96183000-96187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:96183000-96188800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:96183000-96192800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:96183200-96185800	Weak transcription	HUVEC	blood vessel
16	chr13:96183400-96185800	Weak transcription	Pancreas	Pancrea
17	chr13:96183600-96187200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:96184200-96187200	Weak transcription	NHDF-Ad	bronchial
19	chr13:96184600-96186000	Weak transcription	Osteobl	bone
20	chr13:96184800-96186000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:96185000-96185600	Weak transcription	Fetal Kidney	kidney
22	chr13:96185000-96186000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:96185200-96185600	Weak transcription	A549	lung

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