Variant report

Variant	esv2121987
Chromosome Location	chr19:20176552-20177214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151169309	chr19:20176555-20176556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs534841169	chr19:20176575-20176576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190854642	chr19:20176577-20176578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12462016	chr19:20176639-20176640	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183064147	chr19:20176713-20176714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538556222	chr19:20176720-20176721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200420893	chr19:20176730-20176731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs35311460	chr19:20176750-20176751	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs34646653	chr19:20176768-20176769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs188010551	chr19:20176797-20176798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs71332167	chr19:20176830-20176831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs202190987	chr19:20176858-20176859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571631212	chr19:20176880-20176881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs534195015	chr19:20176901-20176902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573008815	chr19:20176938-20176939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574123434	chr19:20176949-20176950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542449857	chr19:20176958-20176959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556358000	chr19:20177007-20177008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs192990561	chr19:20177010-20177011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544876013	chr19:20177018-20177019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564853883	chr19:20177023-20177024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542023638	chr19:20177024-20177025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527255033	chr19:20177045-20177046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs540630610	chr19:20177065-20177066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376612269	chr19:20177088-20177089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561910249	chr19:20177099-20177100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113578820	chr19:20177118-20177119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549287966	chr19:20177165-20177166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs569402283	chr19:20177187-20177188	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs184317506	chr19:20177188-20177189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs187474236	chr19:20177205-20177206	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571973311	chr19:20177207-20177208	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534180375	chr19:20177211-20177212	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20170200-20178200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:20176000-20177200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:20176400-20178400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:20177200-20177600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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