Variant report

Variant	nsv971549
Chromosome Location	chr7:15040355-15048809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:15033798..15035958-chr7:15043965..15046706,2	K562	blood:
2	chr7:15003480..15005257-chr7:15044429..15047091,2	K562	blood:
3	chr7:15046835..15047773-chr7:15055487..15056275,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377249419	chr7:15040391-15040392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559485552	chr7:15040396-15040397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550331080	chr7:15040397-15040398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529141927	chr7:15040434-15040435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549016861	chr7:15040436-15040437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566006852	chr7:15040548-15040549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180714183	chr7:15040559-15040560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530560702	chr7:15040599-15040600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374494143	chr7:15047000-15047001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574778032	chr7:15047010-15047011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75442520	chr7:15047024-15047025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4721399	chr7:15047028-15047029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530913529	chr7:15047030-15047031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550754887	chr7:15047051-15047052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139972280	chr7:15047069-15047070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533993552	chr7:15047074-15047075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546950786	chr7:15047088-15047089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566805995	chr7:15047093-15047094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553837090	chr7:15047139-15047140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538899630	chr7:15047147-15047148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555679518	chr7:15047198-15047199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552424200	chr7:15047208-15047209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114478888	chr7:15047214-15047215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115004718	chr7:15047235-15047236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554408494	chr7:15047243-15047244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574475192	chr7:15047259-15047260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76288320	chr7:15047263-15047264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4719430	chr7:15047280-15047281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs377634580	chr7:15047294-15047295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374403313	chr7:15047300-15047301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563652816	chr7:15047308-15047309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573218828	chr7:15047315-15047316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545248532	chr7:15047319-15047320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150665127	chr7:15047367-15047368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368017220	chr7:15047370-15047371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115894958	chr7:15047388-15047389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143542676	chr7:15047391-15047392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544785954	chr7:15047400-15047401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186157798	chr7:15047423-15047424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370303583	chr7:15047424-15047425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573888095	chr7:15047436-15047437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374796030	chr7:15047441-15047442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367593068	chr7:15047445-15047446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575421896	chr7:15047464-15047465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146790956	chr7:15047483-15047484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139590973	chr7:15047499-15047500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532453156	chr7:15047517-15047518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552461462	chr7:15047526-15047527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544386878	chr7:15047529-15047530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537697955	chr7:15047621-15047622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15039000-15040600	Enhancers	Liver	Liver
2	chr7:15047000-15048200	Enhancers	Liver	Liver
3	chr7:15047400-15047600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:15047600-15055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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