Variant report

Variant	esv3356485
Chromosome Location	chr7:16289227-16293625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:211 , 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	rs532590516	chr7:16289249-16289250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547819991	chr7:16289260-16289261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182601178	chr7:16289343-16289344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188120462	chr7:16289373-16289374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193093171	chr7:16289377-16289378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558688129	chr7:16289390-16289391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371107196	chr7:16289399-16289400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537522482	chr7:16289403-16289404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80280843	chr7:16289437-16289438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148320323	chr7:16289456-16289457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141454722	chr7:16289458-16289459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185355209	chr7:16289491-16289492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571984210	chr7:16289506-16289507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542926241	chr7:16289527-16289528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371125337	chr7:16289558-16289559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554443216	chr7:16289559-16289560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576230674	chr7:16289569-16289570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188694699	chr7:16289589-16289590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529992881	chr7:16289639-16289640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193031734	chr7:16289652-16289653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115652913	chr7:16289681-16289682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150882645	chr7:16289700-16289701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375354332	chr7:16289751-16289752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184773290	chr7:16289754-16289755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548891869	chr7:16289755-16289756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553394880	chr7:16289793-16289794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531177332	chr7:16289914-16289915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138251301	chr7:16289916-16289917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7797808	chr7:16289930-16289931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs111940941	chr7:16289931-16289932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370093899	chr7:16289934-16289935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369277913	chr7:16290001-16290002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556443784	chr7:16290009-16290010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370866628	chr7:16290018-16290019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143066366	chr7:16290037-16290038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565374304	chr7:16290046-16290047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536151202	chr7:16290050-16290051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549626927	chr7:16290068-16290069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576265073	chr7:16290082-16290083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199527740	chr7:16290089-16290090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146152412	chr7:16290109-16290110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188061231	chr7:16290111-16290112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371926716	chr7:16290135-16290136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139136617	chr7:16290153-16290154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376594475	chr7:16290157-16290158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180964340	chr7:16290161-16290162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367543550	chr7:16290183-16290184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143981533	chr7:16290184-16290185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563967302	chr7:16290202-16290203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1295161	chr7:16290208-16290209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16275000-16304400	Weak transcription	Fetal Lung	lung
2	chr7:16280200-16289400	Weak transcription	Left Ventricle	heart
3	chr7:16286800-16295800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:16288000-16291800	Weak transcription	Gastric	stomach
5	chr7:16289200-16296600	Weak transcription	Fetal Stomach	stomach
6	chr7:16291200-16293800	Weak transcription	Fetal Kidney	kidney

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