Variant report

Variant	esv3412885
Chromosome Location	chr7:15568477-15572400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 289 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:289 , 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	rs143753393	chr7:15568515-15568516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148176855	chr7:15568528-15568529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539582782	chr7:15568563-15568564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141984475	chr7:15568566-15568567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372740151	chr7:15568603-15568604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573523826	chr7:15568637-15568638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80024091	chr7:15568638-15568639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146189065	chr7:15568661-15568662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541358368	chr7:15568663-15568664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75785835	chr7:15568703-15568704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185724613	chr7:15568710-15568711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562502564	chr7:15568738-15568739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563155758	chr7:15568752-15568753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530615165	chr7:15568755-15568756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189360891	chr7:15568780-15568781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180733801	chr7:15568785-15568786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114946894	chr7:15568801-15568802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551555668	chr7:15568808-15568809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115686661	chr7:15568836-15568837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546390147	chr7:15568849-15568850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183659684	chr7:15568863-15568864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75400025	chr7:15568868-15568869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370334523	chr7:15568899-15568900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550936309	chr7:15568929-15568930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569184776	chr7:15568954-15568955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539917933	chr7:15569016-15569017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551945977	chr7:15569030-15569031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73679644	chr7:15569050-15569051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114976975	chr7:15569094-15569095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188377355	chr7:15569101-15569102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13245365	chr7:15569109-15569110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574243361	chr7:15569142-15569143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538193021	chr7:15569154-15569155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372828204	chr7:15569169-15569170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375379494	chr7:15569170-15569171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77001636	chr7:15569171-15569172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7793855	chr7:15569177-15569178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575199315	chr7:15569178-15569179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369724680	chr7:15569181-15569182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545403292	chr7:15569189-15569190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373213590	chr7:15569193-15569194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377448137	chr7:15569198-15569199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74219998	chr7:15569200-15569201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371302128	chr7:15569202-15569203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373030019	chr7:15569211-15569212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377396043	chr7:15569218-15569219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370447246	chr7:15569220-15569221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563790683	chr7:15569223-15569224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374692078	chr7:15569224-15569225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368148927	chr7:15569229-15569230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Osteosarcoma	21215367	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15565600-15579000	Weak transcription	Liver	Liver
2	chr7:15571400-15571600	Enhancers	Left Ventricle	heart
3	chr7:15571800-15572400	Weak transcription	Left Ventricle	heart
4	chr7:15572400-15572600	Enhancers	Left Ventricle	heart
5	chr7:15572400-15573000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:15572400-15573000	Active TSS	Adipose Nuclei	Adipose

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