Variant report

Variant	esv3435841
Chromosome Location	chr13:53491197-53491686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53490145..53492114-chr13:53495948..53497720,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534550634	chr13:53491200-53491201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370972049	chr13:53491230-53491231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7490792	chr13:53491256-53491257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543176048	chr13:53491277-53491278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557049194	chr13:53491293-53491294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577008979	chr13:53491339-53491340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546031060	chr13:53491344-53491345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559619502	chr13:53491352-53491353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547653032	chr13:53491365-53491366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145503448	chr13:53491369-53491370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36086559	chr13:53491372-53491373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561959235	chr13:53491373-53491374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148830842	chr13:53491386-53491387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550779499	chr13:53491417-53491418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564609942	chr13:53491418-53491419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146929149	chr13:53491478-53491479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115298646	chr13:53491542-53491543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112953246	chr13:53491545-53491546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374423574	chr13:53491548-53491549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113544150	chr13:53491549-53491550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59849055	chr13:53491561-53491562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534628960	chr13:53491573-53491574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548142094	chr13:53491678-53491679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53490400-53491200	Enhancers	HSMM	muscle
2	chr13:53490800-53494000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:53490800-53497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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