Variant report

Variant	esv3360970
Chromosome Location	chr7:18825990-18826548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564883945	chr7:18826029-18826030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574486519	chr7:18826040-18826041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552184347	chr7:18826077-18826078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368552629	chr7:18826078-18826079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374452168	chr7:18826083-18826084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562273190	chr7:18826087-18826088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201323977	chr7:18826088-18826089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56987209	chr7:18826091-18826092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536317408	chr7:18826092-18826093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113788268	chr7:18826093-18826094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6971780	chr7:18826094-18826095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58962657	chr7:18826108-18826109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143616708	chr7:18826109-18826110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58315358	chr7:18826110-18826111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59575495	chr7:18826112-18826113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375761397	chr7:18826114-18826115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540461288	chr7:18826127-18826128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549362663	chr7:18826128-18826129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71525670	chr7:18826158-18826159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567768860	chr7:18826201-18826202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537905995	chr7:18826207-18826208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34314311	chr7:18826208-18826209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201828585	chr7:18826209-18826210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142243312	chr7:18826211-18826212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142067742	chr7:18826212-18826213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143027400	chr7:18826216-18826217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554020512	chr7:18826223-18826224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372322093	chr7:18826238-18826239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13225982	chr7:18826242-18826243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13225984	chr7:18826246-18826247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368405964	chr7:18826250-18826251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13240422	chr7:18826254-18826255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13240430	chr7:18826264-18826265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13226069	chr7:18826270-18826271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11768313	chr7:18826272-18826273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13240439	chr7:18826277-18826278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554242800	chr7:18826297-18826298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73080842	chr7:18826318-18826319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185718402	chr7:18826323-18826324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565129542	chr7:18826333-18826334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190524208	chr7:18826348-18826349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541371001	chr7:18826349-18826350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137942671	chr7:18826363-18826364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559699802	chr7:18826387-18826388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529988172	chr7:18826402-18826403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1476472	chr7:18826419-18826420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3857710	chr7:18826443-18826444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148795227	chr7:18826444-18826445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531871559	chr7:18826451-18826452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544866526	chr7:18826459-18826460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18812400-18826400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:18818600-18832200	Weak transcription	Osteobl	bone
4	chr7:18818800-18832400	Weak transcription	HSMMtube	muscle
5	chr7:18822200-18827000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:18822600-18826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:18826400-18828000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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