Variant report

Variant	esv3448493
Chromosome Location	chr7:12023477-12025475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 89 )

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	rs145656057	chr7:12023483-12023484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371325837	chr7:12023525-12023526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530623326	chr7:12023538-12023539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375727413	chr7:12023539-12023540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567268609	chr7:12023601-12023602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536389239	chr7:12023625-12023626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368966637	chr7:12023635-12023636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552983200	chr7:12023638-12023639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566520140	chr7:12023658-12023659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188926934	chr7:12023689-12023690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558997561	chr7:12023693-12023694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575746066	chr7:12023718-12023719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560400402	chr7:12023720-12023721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376899226	chr7:12023729-12023730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143587338	chr7:12023732-12023733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372262053	chr7:12023733-12023734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193135996	chr7:12023735-12023736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111605198	chr7:12023780-12023781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574576380	chr7:12023806-12023807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73290946	chr7:12023844-12023845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560108959	chr7:12023861-12023862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11773624	chr7:12023864-12023865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76378309	chr7:12023887-12023888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565057469	chr7:12023940-12023941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369696109	chr7:12023956-12023957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550489882	chr7:12023991-12023992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561096870	chr7:12024022-12024023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10281604	chr7:12024049-12024050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377745422	chr7:12024079-12024080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577744242	chr7:12024083-12024084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546760089	chr7:12024101-12024102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375094205	chr7:12024103-12024104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114471430	chr7:12024138-12024139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538640888	chr7:12024148-12024149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369764952	chr7:12024150-12024151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10252181	chr7:12024204-12024205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10252187	chr7:12024219-12024220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115932615	chr7:12024224-12024225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536441723	chr7:12024227-12024228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554841004	chr7:12024231-12024232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371491250	chr7:12024244-12024245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185202304	chr7:12024255-12024256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534017423	chr7:12024302-12024303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553855609	chr7:12024350-12024351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546950440	chr7:12024414-12024415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190175110	chr7:12024481-12024482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545894709	chr7:12024482-12024483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79842351	chr7:12024488-12024489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200866407	chr7:12024498-12024499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201679010	chr7:12024499-12024500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12021000-12026600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12025000-12026000	Enhancers	Placenta Amnion	Placenta Amnion

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