Variant report

Variant	esv9819
Chromosome Location	chr7:15089246-15092130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116997340	chr7:15089248-15089249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527367100	chr7:15089265-15089266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141596673	chr7:15089292-15089293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147034564	chr7:15089306-15089307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570460859	chr7:15089326-15089327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539381636	chr7:15089350-15089351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74785329	chr7:15089365-15089366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73066737	chr7:15089408-15089409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78648219	chr7:15089448-15089449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs218087	chr7:15089480-15089481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188929158	chr7:15089491-15089492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192480873	chr7:15089499-15089500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534023355	chr7:15089500-15089501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73681316	chr7:15089517-15089518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576783640	chr7:15089535-15089536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138238707	chr7:15089546-15089547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184587217	chr7:15089575-15089576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202200002	chr7:15089580-15089581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200092194	chr7:15089581-15089582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78905172	chr7:15089583-15089584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398072984	chr7:15089590-15089591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188194005	chr7:15089594-15089595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192935661	chr7:15089595-15089596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376592301	chr7:15089640-15089641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576173339	chr7:15089681-15089682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542041622	chr7:15089701-15089702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542968520	chr7:15089744-15089745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561843599	chr7:15089771-15089772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149159662	chr7:15089776-15089777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201232782	chr7:15089854-15089855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71951217	chr7:15089855-15089856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58477335	chr7:15089866-15089867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562955800	chr7:15089872-15089873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73681317	chr7:15089874-15089875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528899065	chr7:15089901-15089902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148342404	chr7:15089934-15089935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549061769	chr7:15089935-15089936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10227428	chr7:15089975-15089976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183508022	chr7:15089990-15089991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569502616	chr7:15090088-15090089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186790766	chr7:15090113-15090114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548807932	chr7:15090114-15090115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568303363	chr7:15090129-15090130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142255750	chr7:15090140-15090141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553800379	chr7:15090141-15090142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146380256	chr7:15090169-15090170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539785382	chr7:15090195-15090196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78415907	chr7:15090260-15090261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77494219	chr7:15090342-15090343	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10692104	chr7:15090343-15090344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15084600-15093600	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:15090200-15093400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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