Variant report

Variant	nsv8054
Chromosome Location	chr7:14294529-14299547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:223 , 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	rs377111884	chr7:14294561-14294562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1011539	chr7:14294598-14294599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35404689	chr7:14294638-14294639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540372557	chr7:14294655-14294656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34701126	chr7:14294673-14294674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370683465	chr7:14294682-14294683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191039737	chr7:14294705-14294706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13438469	chr7:14294745-14294746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563979938	chr7:14294754-14294755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149807760	chr7:14294839-14294840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543338116	chr7:14294904-14294905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144742545	chr7:14294952-14294953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543289707	chr7:14295006-14295007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75584416	chr7:14295032-14295033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559187956	chr7:14295081-14295082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182373355	chr7:14295112-14295113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567634097	chr7:14295142-14295143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73069652	chr7:14295154-14295155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187808754	chr7:14295165-14295166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6962879	chr7:14295168-14295169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550519176	chr7:14295219-14295220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371135925	chr7:14295220-14295221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115746162	chr7:14295235-14295236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76321265	chr7:14295238-14295239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73069654	chr7:14295256-14295257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73069655	chr7:14295263-14295264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201721858	chr7:14295365-14295366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192375723	chr7:14295375-14295376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182974950	chr7:14295389-14295390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540841385	chr7:14295391-14295392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557808470	chr7:14295418-14295419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142925877	chr7:14295483-14295484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543178923	chr7:14295510-14295511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563249778	chr7:14295521-14295522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11396716	chr7:14295566-14295567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573833685	chr7:14295573-14295574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542554873	chr7:14295664-14295665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6949452	chr7:14295671-14295672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs56233523	chr7:14295695-14295696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187319475	chr7:14295699-14295700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59734999	chr7:14295700-14295701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151105017	chr7:14295712-14295713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138402906	chr7:14295741-14295742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183036421	chr7:14295744-14295745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570258062	chr7:14295786-14295787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73273678	chr7:14295822-14295823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549394205	chr7:14295835-14295836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566093052	chr7:14295869-14295870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184883324	chr7:14295949-14295950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77088397	chr7:14295966-14295967	Weak transcription Enhancers	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
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14292400-14299400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:14293400-14297000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14293800-14295200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:14295200-14295400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:14295400-14298000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:14297000-14297400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:14297200-14298800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:14297400-14300600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:14297800-14298800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:14297800-14299000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:14298000-14298200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:14298200-14298600	Enhancers	Brain Germinal Matrix	brain
13	chr7:14298800-14299800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:14299400-14299600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:14299400-14300400	Enhancers	Fetal Brain Male	brain

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