Variant report

Variant	esv3363242
Chromosome Location	chr7:15392227-15395825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:15392439..15394759-chr7:15395448..15398263,2	K562	blood:
2	chr7:15392439..15394759-chr7:15395448..15398263,2	K562	blood:

Extended variants
information (count: 268 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368913527	chr7:15392228-15392229	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574100738	chr7:15392229-15392230	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544783487	chr7:15392250-15392251	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139264591	chr7:15392263-15392264	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373540199	chr7:15392272-15392273	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186617603	chr7:15392355-15392356	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552125974	chr7:15392356-15392357	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554747938	chr7:15392358-15392359	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28526248	chr7:15392362-15392363	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561389254	chr7:15392368-15392369	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528071947	chr7:15392375-15392376	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75413273	chr7:15392388-15392389	Strong transcription Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568141110	chr7:15392458-15392459	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149970714	chr7:15392487-15392488	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs191418106	chr7:15392505-15392506	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550319459	chr7:15392509-15392510	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568712984	chr7:15392524-15392525	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145251862	chr7:15392526-15392527	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557616418	chr7:15392532-15392533	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79484070	chr7:15392578-15392579	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181929477	chr7:15392596-15392597	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555519159	chr7:15392641-15392642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574041930	chr7:15392644-15392645	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544386068	chr7:15392658-15392659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115178883	chr7:15392662-15392663	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114126714	chr7:15392676-15392677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545650249	chr7:15392699-15392700	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560743633	chr7:15392712-15392713	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528019342	chr7:15392735-15392736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12334235	chr7:15392848-15392849	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554407374	chr7:15392854-15392855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187168720	chr7:15392858-15392859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112871322	chr7:15392875-15392876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115250650	chr7:15392893-15392894	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550282353	chr7:15392899-15392900	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577481480	chr7:15392900-15392901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369845742	chr7:15392919-15392920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191039880	chr7:15392925-15392926	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568647003	chr7:15392929-15392930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62450354	chr7:15392943-15392944	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551209573	chr7:15392962-15392963	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566750125	chr7:15392986-15392987	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182143492	chr7:15392995-15392996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555689842	chr7:15393011-15393012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185174317	chr7:15393022-15393023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577637612	chr7:15393025-15393026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538309857	chr7:15393031-15393032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556677315	chr7:15393043-15393044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578162416	chr7:15393058-15393059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545611658	chr7:15393081-15393082	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
Osteosarcoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15391800-15396800	Weak transcription	Fetal Heart	heart
2	chr7:15392000-15392400	Active TSS	Esophagus	oesophagus
3	chr7:15392000-15392600	Active TSS	Fetal Muscle Leg	muscle
4	chr7:15392200-15393000	Strong transcription	Liver	Liver
5	chr7:15393000-15397000	Weak transcription	Liver	Liver
6	chr7:15394400-15396800	Weak transcription	NHDF-Ad	bronchial

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