Variant report

Variant	esv33888
Chromosome Location	chr7:12975215-12979881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 288 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:288 , 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	rs34055	chr7:12975216-12975217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188831972	chr7:12975220-12975221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149576368	chr7:12975250-12975251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143288549	chr7:12975270-12975271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557441927	chr7:12975303-12975304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577674116	chr7:12975409-12975410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554438285	chr7:12975414-12975415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193284728	chr7:12975429-12975430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183777362	chr7:12975430-12975431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138905968	chr7:12975457-12975458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142364976	chr7:12975458-12975459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34054	chr7:12975471-12975472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547789644	chr7:12975524-12975525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564275953	chr7:12975533-12975534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372844418	chr7:12975534-12975535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550054576	chr7:12975537-12975538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575199851	chr7:12975548-12975549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11980091	chr7:12975555-12975556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560870070	chr7:12975606-12975607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529481622	chr7:12975659-12975660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529965988	chr7:12975661-12975662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549132366	chr7:12975684-12975685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142018268	chr7:12975729-12975730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534961345	chr7:12975744-12975745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150708942	chr7:12975760-12975761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571198632	chr7:12975774-12975775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537045384	chr7:12975795-12975796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557118241	chr7:12975801-12975802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573762872	chr7:12975805-12975806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559953963	chr7:12975806-12975807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542857641	chr7:12975827-12975828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532495118	chr7:12975860-12975861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553175202	chr7:12975863-12975864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80158172	chr7:12975880-12975881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373092125	chr7:12975899-12975900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571711501	chr7:12975926-12975927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147585727	chr7:12975992-12975993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565183635	chr7:12976005-12976006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533200655	chr7:12976006-12976007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543784923	chr7:12976008-12976009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538250307	chr7:12976023-12976024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113144212	chr7:12976040-12976041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529321844	chr7:12976041-12976042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549171008	chr7:12976064-12976065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565897260	chr7:12976073-12976074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568750356	chr7:12976083-12976084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188843616	chr7:12976087-12976088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144386129	chr7:12976104-12976105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571884684	chr7:12976141-12976142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536680674	chr7:12976143-12976144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12969800-12982000	Weak transcription	A549	lung
2	chr7:12979000-12979800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr7:12979200-12980000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr7:12979400-12979800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:12979600-12979800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
6	chr7:12979600-12980000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr7:12979800-12982200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:12979800-12991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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