Variant report

Variant	esv6308
Chromosome Location	chr20:14528816-14529625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:14528814-14528850	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000227563	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539134223	chr20:14528822-14528823	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557612726	chr20:14528864-14528865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531111347	chr20:14528894-14528895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77743989	chr20:14528915-14528916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374640040	chr20:14528935-14528936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182854630	chr20:14528960-14528961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73901274	chr20:14528968-14528969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74936085	chr20:14529048-14529049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201060104	chr20:14529083-14529084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199806394	chr20:14529084-14529085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200846794	chr20:14529085-14529086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201408841	chr20:14529086-14529087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199514460	chr20:14529087-14529088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11698750	chr20:14529130-14529131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187187283	chr20:14529140-14529141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545461482	chr20:14529210-14529211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563665774	chr20:14529220-14529221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371478318	chr20:14529233-14529234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11698771	chr20:14529243-14529244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11698797	chr20:14529350-14529351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373767542	chr20:14529378-14529379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376374101	chr20:14529379-14529380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201735570	chr20:14529381-14529382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144648660	chr20:14529417-14529418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549332935	chr20:14529421-14529422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561196740	chr20:14529428-14529429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528768291	chr20:14529467-14529468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546927313	chr20:14529483-14529484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6110322	chr20:14529485-14529486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539098391	chr20:14529495-14529496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190997054	chr20:14529545-14529546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569675303	chr20:14529565-14529566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147873195	chr20:14529604-14529605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555282781	chr20:14529616-14529617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14523000-14529600	Weak transcription	Gastric	stomach
2	chr20:14529600-14529800	ZNF genes & repeats	Gastric	stomach

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