Variant report

Variant	esv3433693
Chromosome Location	chr13:29804352-29804692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367980100	chr13:29804368-29804369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567472451	chr13:29804377-29804378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184670691	chr13:29804411-29804412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75630957	chr13:29804430-29804431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569295544	chr13:29804447-29804448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189463788	chr13:29804460-29804461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180812897	chr13:29804467-29804468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144280507	chr13:29804501-29804502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541133613	chr13:29804539-29804540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9314942	chr13:29804553-29804554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9314943	chr13:29804567-29804568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9314944	chr13:29804654-29804655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9551630	chr13:29804661-29804662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185812225	chr13:29804669-29804670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545027698	chr13:29804683-29804684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:29798400-29806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:29799400-29807400	Weak transcription	Aorta	Aorta
3	chr13:29801800-29806200	Weak transcription	Fetal Brain Male	brain
4	chr13:29802000-29804600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:29802400-29805000	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:29802600-29804600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:29803200-29804600	Weak transcription	Fetal Heart	heart
8	chr13:29804600-29805800	Enhancers	Rectal Smooth Muscle	rectum
9	chr13:29804600-29805800	Enhancers	Stomach Smooth Muscle	stomach
10	chr13:29804600-29807400	Enhancers	Fetal Heart	heart

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