Variant report

Variant	nsv606431
Chromosome Location	chr7:25457072-25461241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150883172	chr7:25460407-25460408	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569475328	chr7:25460408-25460409	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530431074	chr7:25460420-25460421	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139372572	chr7:25460482-25460483	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181803843	chr7:25460488-25460489	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568463651	chr7:25460519-25460520	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570287608	chr7:25460550-25460551	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150031724	chr7:25460603-25460604	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs17151595	chr7:25460609-25460610	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565772152	chr7:25460621-25460622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs186832760	chr7:25460686-25460687	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191070773	chr7:25460687-25460688	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574079925	chr7:25460756-25460757	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534215742	chr7:25460764-25460765	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536977980	chr7:25460782-25460783	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs183215323	chr7:25460783-25460784	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537171992	chr7:25460818-25460819	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545987695	chr7:25460827-25460828	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73693613	chr7:25460844-25460845	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572522463	chr7:25460930-25460931	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117268241	chr7:25460989-25460990	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186430875	chr7:25460993-25460994	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534396860	chr7:25460999-25461000	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190008898	chr7:25461027-25461028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550539478	chr7:25461076-25461077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547496834	chr7:25461077-25461078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140179283	chr7:25461131-25461132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532810875	chr7:25461147-25461148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182774707	chr7:25461169-25461170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188094835	chr7:25461202-25461203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534751571	chr7:25461213-25461214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6974243	chr7:25461241-25461242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25460400-25460600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:25460400-25460800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:25460400-25461000	Active TSS	Fetal Brain Male	brain
4	chr7:25460400-25461000	Enhancers	Fetal Lung	lung
5	chr7:25460600-25464000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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