Variant report

Variant	esv3418580
Chromosome Location	chr7:25288822-25289253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188736084	chr7:25288822-25288823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572795255	chr7:25288826-25288827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541782503	chr7:25288863-25288864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192008649	chr7:25288874-25288875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2717894	chr7:25288882-25288883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112882189	chr7:25288893-25288894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565652625	chr7:25288896-25288897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138823781	chr7:25288901-25288902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563406572	chr7:25288905-25288906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532032676	chr7:25288927-25288928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2717893	chr7:25288947-25288948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376296778	chr7:25288955-25288956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143087571	chr7:25288956-25288957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67371712	chr7:25288974-25288975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369763596	chr7:25288983-25288984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184943772	chr7:25288984-25288985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537289626	chr7:25288990-25288991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146022988	chr7:25288991-25288992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373887048	chr7:25288992-25288993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570163987	chr7:25289019-25289020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572759291	chr7:25289020-25289021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188083040	chr7:25289035-25289036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559080997	chr7:25289059-25289060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572502477	chr7:25289086-25289087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541436496	chr7:25289102-25289103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25286400-25299200	Weak transcription	Fetal Kidney	kidney
2	chr7:25288800-25289800	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:25288800-25290200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:25288800-25295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:25289000-25289200	Enhancers	HepG2	liver
6	chr7:25289200-25290000	Flanking Active TSS	HepG2	liver

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