Variant report

Variant	esv3355915
Chromosome Location	chr7:16290527-16295025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376702501	chr7:16290558-16290559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1295160	chr7:16290577-16290578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186588348	chr7:16290585-16290586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570099770	chr7:16290677-16290678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373061351	chr7:16290726-16290727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141283607	chr7:16290730-16290731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535327605	chr7:16290740-16290741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556002897	chr7:16290790-16290791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563555975	chr7:16290800-16290801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199994276	chr7:16290819-16290820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558189254	chr7:16290831-16290832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191952465	chr7:16290834-16290835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564321676	chr7:16290845-16290846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528698815	chr7:16290857-16290858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546796675	chr7:16290870-16290871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559351643	chr7:16290878-16290879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529771243	chr7:16290943-16290944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548133628	chr7:16291006-16291007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62440407	chr7:16291039-16291040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7802994	chr7:16291064-16291065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376331145	chr7:16291084-16291085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570651905	chr7:16291087-16291088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534769636	chr7:16291125-16291126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553208133	chr7:16291151-16291152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574850191	chr7:16291159-16291160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535593790	chr7:16291165-16291166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181838448	chr7:16291167-16291168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557310873	chr7:16291176-16291177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554731851	chr7:16291196-16291197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575580269	chr7:16291236-16291237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186529954	chr7:16291238-16291239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189790588	chr7:16291254-16291255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573202348	chr7:16291334-16291335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182453187	chr7:16291336-16291337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540896613	chr7:16291341-16291342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553897582	chr7:16291342-16291343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562157413	chr7:16291397-16291398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113340436	chr7:16291401-16291402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577138510	chr7:16291425-16291426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546331583	chr7:16291426-16291427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150186974	chr7:16291439-16291440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563292125	chr7:16291488-16291489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530562399	chr7:16291522-16291523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564858180	chr7:16291542-16291543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552211678	chr7:16291555-16291556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570714154	chr7:16291570-16291571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188252020	chr7:16291660-16291661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138689544	chr7:16291664-16291665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568199552	chr7:16291670-16291671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535925340	chr7:16291707-16291708	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
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
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16275000-16304400	Weak transcription	Fetal Lung	lung
2	chr7:16286800-16295800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:16288000-16291800	Weak transcription	Gastric	stomach
4	chr7:16289200-16296600	Weak transcription	Fetal Stomach	stomach
5	chr7:16291200-16293800	Weak transcription	Fetal Kidney	kidney

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