Variant report

Variant	esv2590385
Chromosome Location	chr7:14856434-14858036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183106295	chr7:14856455-14856456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566432537	chr7:14856461-14856462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563559194	chr7:14856469-14856470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112093591	chr7:14856474-14856475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143289879	chr7:14856486-14856487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148339664	chr7:14856539-14856540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10276124	chr7:14856564-14856565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551423691	chr7:14856579-14856580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571275237	chr7:14856607-14856608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537002951	chr7:14856608-14856609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10260512	chr7:14856700-14856701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114207873	chr7:14856713-14856714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147528494	chr7:14856721-14856722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16878281	chr7:14856726-14856727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs188485250	chr7:14856765-14856766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192879890	chr7:14856777-14856778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377333427	chr7:14856778-14856779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578042206	chr7:14856787-14856788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543790973	chr7:14856802-14856803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369726533	chr7:14856810-14856811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573579766	chr7:14856820-14856821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542550966	chr7:14856832-14856833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568749720	chr7:14856840-14856841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559239097	chr7:14856841-14856842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528245642	chr7:14856880-14856881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185463897	chr7:14856888-14856889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10276530	chr7:14856925-14856926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187658182	chr7:14856936-14856937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550546470	chr7:14856937-14856938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567298408	chr7:14856946-14856947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536139500	chr7:14856950-14856951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138581899	chr7:14856967-14856968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566380993	chr7:14856988-14856989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535180780	chr7:14857060-14857061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192634940	chr7:14857081-14857082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13242402	chr7:14857103-14857104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578047541	chr7:14857119-14857120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142693514	chr7:14857120-14857121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556923708	chr7:14857186-14857187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573665653	chr7:14857234-14857235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542635706	chr7:14857250-14857251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559173107	chr7:14857276-14857277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573061563	chr7:14857297-14857298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545176491	chr7:14857368-14857369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564976577	chr7:14857381-14857382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568223369	chr7:14857384-14857385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530606335	chr7:14857385-14857386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550437054	chr7:14857395-14857396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150731846	chr7:14857399-14857400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183504554	chr7:14857403-14857404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14847400-14861400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:14855800-14873200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:14858000-14859200	Enhancers	Stomach Mucosa	stomach

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