Variant report

Variant	nsv524706
Chromosome Location	chr7:15416564-15417899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4551231	chr7:15416564-15416565	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56902515	chr7:15416567-15416568	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528045838	chr7:15416572-15416573	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189474000	chr7:15416576-15416577	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567747603	chr7:15416602-15416603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535186563	chr7:15416612-15416613	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148494707	chr7:15416615-15416616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568954701	chr7:15416622-15416623	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs180776218	chr7:15416633-15416634	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113380048	chr7:15416637-15416638	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111230163	chr7:15416679-15416680	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185978932	chr7:15416685-15416686	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs146558434	chr7:15416710-15416711	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115166158	chr7:15416713-15416714	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544367825	chr7:15416725-15416726	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563043534	chr7:15416727-15416728	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370830329	chr7:15416739-15416740	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113680615	chr7:15416764-15416765	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs578082393	chr7:15416804-15416805	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545601844	chr7:15416828-15416829	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569830989	chr7:15416840-15416841	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560388088	chr7:15416867-15416868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs527958579	chr7:15416870-15416871	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549302005	chr7:15416881-15416882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4493804	chr7:15416888-15416889	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190850360	chr7:15416929-15416930	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565653433	chr7:15416944-15416945	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181132013	chr7:15416974-15416975	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561416128	chr7:15416985-15416986	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201140427	chr7:15416994-15416995	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568941923	chr7:15416995-15416996	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539222734	chr7:15417003-15417004	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs111282649	chr7:15417020-15417021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186371184	chr7:15417021-15417022	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566699533	chr7:15417029-15417030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534063277	chr7:15417040-15417041	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12699709	chr7:15417042-15417043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs190625005	chr7:15417045-15417046	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183178542	chr7:15417077-15417078	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372942458	chr7:15417079-15417080	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538239588	chr7:15417121-15417122	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556352005	chr7:15417122-15417123	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs367890934	chr7:15417142-15417143	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187837930	chr7:15417173-15417174	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560299805	chr7:15417184-15417185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs191153398	chr7:15417189-15417190	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs572347425	chr7:15417278-15417279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542911486	chr7:15417306-15417307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372116583	chr7:15417326-15417327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528843474	chr7:15417328-15417329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15415600-15417200	Enhancers	Osteobl	bone
2	chr7:15415800-15417200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:15416200-15417200	Flanking Active TSS	Liver	Liver
4	chr7:15416400-15416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:15416400-15417000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:15416600-15417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:15417200-15417600	Enhancers	Liver	Liver
8	chr7:15417200-15418400	Weak transcription	Osteobl	bone
9	chr7:15417600-15421000	Weak transcription	Liver	Liver

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