Variant report

Variant	esv3328535
Chromosome Location	chr2:173521957-173522207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111633428	chr2:173522043-173522044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61121406	chr2:173522044-173522045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560289078	chr2:173522064-173522065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10930568	chr2:173522073-173522074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577737996	chr2:173522094-173522095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540069260	chr2:173522095-173522096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545996766	chr2:173522123-173522124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs856972	chr2:173522124-173522125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114139727	chr2:173522159-173522160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62169301	chr2:173522160-173522161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374616714	chr2:173522172-173522173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373452339	chr2:173522173-173522174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150626239	chr2:173522183-173522184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs836609	chr2:173522194-173522195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173513600-173522200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173521000-173522400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:173521200-173522400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:173521400-173536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:173521800-173522400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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