Variant report

Variant	esv3350358
Chromosome Location	chr7:15283943-15284471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574426549	chr7:15283951-15283952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551484531	chr7:15283957-15283958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7812160	chr7:15284032-15284033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529748435	chr7:15284045-15284046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35195332	chr7:15284084-15284085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182862342	chr7:15284091-15284092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535031641	chr7:15284124-15284125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188688520	chr7:15284140-15284141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571906149	chr7:15284142-15284143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537635317	chr7:15284149-15284150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557534694	chr7:15284156-15284157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530687375	chr7:15284163-15284164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570546629	chr7:15284187-15284188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574051671	chr7:15284188-15284189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs137954102	chr7:15284257-15284258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536708051	chr7:15284262-15284263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199901753	chr7:15284266-15284267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200839750	chr7:15284270-15284271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573162503	chr7:15284277-15284278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146089711	chr7:15284281-15284282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564821276	chr7:15284284-15284285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548026397	chr7:15284318-15284319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567833352	chr7:15284334-15284335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567257040	chr7:15284337-15284338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567400857	chr7:15284339-15284340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544006352	chr7:15284340-15284341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561097541	chr7:15284370-15284371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193030335	chr7:15284392-15284393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546649189	chr7:15284395-15284396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538149003	chr7:15284411-15284412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185761823	chr7:15284426-15284427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10246820	chr7:15284436-15284437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552146249	chr7:15284455-15284456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571963521	chr7:15284467-15284468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549528329	chr7:15284470-15284471	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
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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15277200-15284800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:15284400-15298000	Weak transcription	Liver	Liver

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