Variant report

Variant	nsv518175
Chromosome Location	chr7:15414734-15417899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4415218	chr7:15414734-15414735	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182343582	chr7:15414764-15414765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571013656	chr7:15414779-15414780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534912876	chr7:15414799-15414800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553654253	chr7:15414810-15414811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575231613	chr7:15414811-15414812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377511948	chr7:15414839-15414840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137883723	chr7:15414865-15414866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554587963	chr7:15414874-15414875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186309455	chr7:15414877-15414878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4451207	chr7:15414892-15414893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191552579	chr7:15414896-15414897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143557812	chr7:15414907-15414908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551861531	chr7:15414926-15414927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183102446	chr7:15414938-15414939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545192153	chr7:15414958-15414959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147156691	chr7:15414962-15414963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559195553	chr7:15414972-15414973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377507540	chr7:15414985-15414986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549140126	chr7:15415038-15415039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529955953	chr7:15415062-15415063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201218578	chr7:15415063-15415064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116839011	chr7:15415106-15415107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565402024	chr7:15415108-15415109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571788021	chr7:15415115-15415116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139580085	chr7:15415142-15415143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530848093	chr7:15415168-15415169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574723923	chr7:15415186-15415187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371241600	chr7:15415207-15415208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539612514	chr7:15415211-15415212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375502754	chr7:15415274-15415275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376823887	chr7:15415282-15415283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188534411	chr7:15415301-15415302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371034016	chr7:15415314-15415315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547230209	chr7:15415370-15415371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568703741	chr7:15415388-15415389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4355667	chr7:15415398-15415399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192926723	chr7:15415471-15415472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536133525	chr7:15415472-15415473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537680919	chr7:15415483-15415484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557732628	chr7:15415519-15415520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575981187	chr7:15415538-15415539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536658181	chr7:15415544-15415545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558577031	chr7:15415554-15415555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71538902	chr7:15415560-15415561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569782861	chr7:15415580-15415581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576887985	chr7:15415625-15415626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183226601	chr7:15415627-15415628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559109044	chr7:15415639-15415640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574323843	chr7:15415664-15415665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Bladder cancer	21909424	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15414600-15414800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:15414600-15415000	Weak transcription	Liver	Liver
3	chr7:15414800-15415800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:15415000-15416200	Enhancers	Liver	Liver
5	chr7:15415600-15416400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:15415600-15417200	Enhancers	Osteobl	bone
7	chr7:15415800-15417200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:15416200-15417200	Flanking Active TSS	Liver	Liver
9	chr7:15416400-15416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:15416400-15417000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:15416600-15417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:15417200-15417600	Enhancers	Liver	Liver
13	chr7:15417200-15418400	Weak transcription	Osteobl	bone
14	chr7:15417600-15421000	Weak transcription	Liver	Liver

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