Variant report

Variant	esv2227136
Chromosome Location	chr7:14758874-14759295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568182293	chr7:14758897-14758898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78508219	chr7:14758933-14758934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376364627	chr7:14758963-14758964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576801095	chr7:14758986-14758987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113690025	chr7:14758989-14758990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190868577	chr7:14758992-14758993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560473593	chr7:14759025-14759026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17669724	chr7:14759052-14759053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76012420	chr7:14759064-14759065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188110717	chr7:14759065-14759066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192894971	chr7:14759067-14759068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184535032	chr7:14759068-14759069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189273047	chr7:14759100-14759101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181906356	chr7:14759102-14759103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374777956	chr7:14759115-14759116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575400913	chr7:14759131-14759132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13237347	chr7:14759141-14759142	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562543325	chr7:14759174-14759175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182532763	chr7:14759188-14759189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540412680	chr7:14759206-14759207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531492327	chr7:14759213-14759214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75891001	chr7:14759224-14759225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532404738	chr7:14759225-14759226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546038569	chr7:14759238-14759239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562784903	chr7:14759254-14759255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs207467685	chr7:14759259-14759260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188044213	chr7:14759268-14759269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14712800-14775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:14757800-14759000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:14757800-14760000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:14758000-14760200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:14758800-14763000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:14759000-14759200	Enhancers	H9 Cell Line	embryonic stem cell

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