Variant report

Variant	nsv8057
Chromosome Location	chr7:15086972-15094769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 358 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567456744	chr7:15086977-15086978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181191314	chr7:15086982-15086983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184970315	chr7:15087016-15087017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572636763	chr7:15087021-15087022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373428263	chr7:15087037-15087038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190071677	chr7:15087161-15087162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181726423	chr7:15087162-15087163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs218083	chr7:15087164-15087165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368631832	chr7:15087219-15087220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549381398	chr7:15087227-15087228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563784357	chr7:15087235-15087236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574190259	chr7:15087236-15087237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542885679	chr7:15087238-15087239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569384853	chr7:15087246-15087247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528640442	chr7:15087264-15087265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143272686	chr7:15087271-15087272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143685962	chr7:15087288-15087289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374092050	chr7:15087366-15087367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565287672	chr7:15087405-15087406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557826010	chr7:15087476-15087477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530764063	chr7:15087493-15087494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs218084	chr7:15087513-15087514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567415396	chr7:15087537-15087538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375464217	chr7:15087547-15087548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146708984	chr7:15087563-15087564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs218085	chr7:15087599-15087600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs538390047	chr7:15087642-15087643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558191316	chr7:15087676-15087677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575200052	chr7:15087722-15087723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537406492	chr7:15087730-15087731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554532112	chr7:15087743-15087744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573985770	chr7:15087744-15087745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148426445	chr7:15087746-15087747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543337191	chr7:15087767-15087768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187253890	chr7:15087810-15087811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190938104	chr7:15087811-15087812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371985135	chr7:15087826-15087827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570709800	chr7:15087847-15087848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372268343	chr7:15087848-15087849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573434012	chr7:15087868-15087869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545521333	chr7:15087875-15087876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542990573	chr7:15087912-15087913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565349101	chr7:15087916-15087917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142634018	chr7:15087935-15087936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544316547	chr7:15087964-15087965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116933258	chr7:15087976-15087977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373243574	chr7:15087996-15087997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375345675	chr7:15088028-15088029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572002040	chr7:15088072-15088073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150977686	chr7:15088089-15088090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15084600-15093600	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:15086400-15087000	Enhancers	Fetal Intestine Small	intestine
3	chr7:15086600-15087000	Enhancers	Liver	Liver
4	chr7:15090200-15093400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:15092600-15096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:15093400-15093600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:15093600-15093800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:15093600-15094000	Enhancers	Colon Smooth Muscle	Colon
9	chr7:15093800-15094000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:15094000-15094400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:15094000-15096800	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:15094400-15095000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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