Variant report

Variant	esv3362199
Chromosome Location	chr7:14684761-14707777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:12494362..12494952-chr7:14705333..14705867,2	MCF-7	breast:
2	chr7:14703530..14706793-chr7:14707958..14711601,3	K562	blood:

Extended variants
information (count: 243 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:243 , 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	rs146482750	chr7:14684768-14684769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541094604	chr7:14684769-14684770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140967863	chr7:14684770-14684771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530184755	chr7:14684808-14684809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369172767	chr7:14684826-14684827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144783757	chr7:14684837-14684838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs62445643	chr7:14684842-14684843	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1404620	chr7:14684852-14684853	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs62445644	chr7:14684901-14684902	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148265978	chr7:14684903-14684904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555615307	chr7:14684917-14684918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112419480	chr7:14684927-14684928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs386710606	chr7:14684931-14684932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs1404618	chr7:14684932-14684933	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577528025	chr7:14684975-14684976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs76994331	chr7:14684983-14684984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563492634	chr7:14684999-14685000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs573779056	chr7:14685015-14685016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542689133	chr7:14685019-14685020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs559198098	chr7:14685020-14685021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184394738	chr7:14685027-14685028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545024139	chr7:14685033-14685034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564728101	chr7:14685034-14685035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189630857	chr7:14685037-14685038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550237003	chr7:14685038-14685039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570215865	chr7:14685040-14685041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192700156	chr7:14685041-14685042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549431842	chr7:14685072-14685073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566046688	chr7:14685080-14685081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs184999173	chr7:14685110-14685111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs554667543	chr7:14685113-14685114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188882896	chr7:14685118-14685119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10227079	chr7:14685149-14685150	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181594523	chr7:14685159-14685160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531829893	chr7:14685182-14685183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186140808	chr7:14685213-14685214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542478578	chr7:14685238-14685239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs6968775	chr7:14685244-14685245	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572982338	chr7:14685267-14685268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377594934	chr7:14685298-14685299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189333693	chr7:14685306-14685307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs151330914	chr7:14685324-14685325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560563150	chr7:14685325-14685326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370442657	chr7:14685336-14685337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537357772	chr7:14685342-14685343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs180713138	chr7:14685372-14685373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs559163584	chr7:14685387-14685388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs564852919	chr7:14685399-14685400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs58500317	chr7:14687408-14687409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562821855	chr7:14687409-14687410	Active TSS	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14680400-14684800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:14682800-14685400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr7:14684600-14685000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr7:14684600-14685200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:14684600-14685200	ZNF genes & repeats	Liver	Liver
6	chr7:14684600-14685400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:14684800-14685000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:14687400-14687800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:14704200-14736000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:14706400-14712000	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links