Variant report

Variant	esv3395534
Chromosome Location	chr7:19258627-19260575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572587033	chr7:19258637-19258638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144235542	chr7:19258659-19258660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74840357	chr7:19258685-19258686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530633718	chr7:19258696-19258697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111969996	chr7:19258708-19258709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57344949	chr7:19258709-19258710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564559259	chr7:19258763-19258764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372395823	chr7:19258768-19258769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540999124	chr7:19258785-19258786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559487701	chr7:19258796-19258797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10265340	chr7:19258797-19258798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548367417	chr7:19258798-19258799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145797521	chr7:19258827-19258828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375785638	chr7:19258829-19258830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550171334	chr7:19258852-19258853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115935455	chr7:19258860-19258861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539304168	chr7:19258861-19258862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10236005	chr7:19258887-19258888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10265683	chr7:19258888-19258889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10265691	chr7:19258906-19258907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566159255	chr7:19258912-19258913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538228692	chr7:19258924-19258925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575699765	chr7:19258962-19258963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543139645	chr7:19258963-19258964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558113446	chr7:19259007-19259008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145851775	chr7:19259037-19259038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182859000	chr7:19259088-19259089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186169893	chr7:19259113-19259114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138775499	chr7:19259163-19259164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541624309	chr7:19259164-19259165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191275648	chr7:19259186-19259187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142694209	chr7:19259195-19259196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550332300	chr7:19259213-19259214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377315367	chr7:19259214-19259215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139959989	chr7:19259222-19259223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532451141	chr7:19259260-19259261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182937816	chr7:19259323-19259324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367791231	chr7:19259328-19259329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566204571	chr7:19259359-19259360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369911400	chr7:19259360-19259361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200382701	chr7:19259366-19259367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201196828	chr7:19259367-19259368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200906885	chr7:19259376-19259377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199695091	chr7:19259394-19259395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554719451	chr7:19259409-19259410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370303455	chr7:19259411-19259412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188386344	chr7:19259427-19259428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62446748	chr7:19259430-19259431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201629405	chr7:19259437-19259438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10595740	chr7:19259440-19259441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	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	chr7:19256400-19260400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:19260400-19261000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:19260400-19261600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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