Variant report

Variant	nsv972202
Chromosome Location	chr8:112905099-112914431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 230 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:230 , 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	rs73326207	chr8:112905108-112905109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566601932	chr8:112905169-112905170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192603243	chr8:112905261-112905262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577119912	chr8:112905275-112905276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559606268	chr8:112905342-112905343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539871821	chr8:112905346-112905347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556420777	chr8:112905349-112905350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143136795	chr8:112905444-112905445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547499012	chr8:112905449-112905450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528235963	chr8:112905455-112905456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541515326	chr8:112905480-112905481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183803971	chr8:112905516-112905517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561220466	chr8:112905523-112905524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188912445	chr8:112905561-112905562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540729272	chr8:112905608-112905609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564248505	chr8:112905646-112905647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530146732	chr8:112905657-112905658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192398894	chr8:112905739-112905740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184252239	chr8:112905740-112905741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549747199	chr8:112905798-112905799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs320505	chr8:112905802-112905803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114565096	chr8:112905806-112905807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs118151054	chr8:112905808-112905809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552418981	chr8:112905813-112905814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534822477	chr8:112905824-112905825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370215625	chr8:112905836-112905837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115017596	chr8:112905875-112905876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs320506	chr8:112905883-112905884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147054105	chr8:112905896-112905897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10156229	chr8:112905907-112905908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558672196	chr8:112905908-112905909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548306732	chr8:112906029-112906030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528302076	chr8:112906075-112906076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138169685	chr8:112906114-112906115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568048555	chr8:112906133-112906134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537080211	chr8:112906247-112906248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572538392	chr8:112906290-112906291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541656496	chr8:112906305-112906306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs320507	chr8:112906336-112906337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577700385	chr8:112906341-112906342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543558073	chr8:112906486-112906487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576876815	chr8:112906494-112906495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563245368	chr8:112906496-112906497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528898080	chr8:112906513-112906514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549254651	chr8:112906539-112906540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539756108	chr8:112906550-112906551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559637045	chr8:112906553-112906554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188573364	chr8:112906572-112906573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551590167	chr8:112906611-112906612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571369741	chr8:112906612-112906613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112901600-112906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:112901800-112907200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:112905800-112907800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:112906200-112907000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:112906600-112907600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:112906600-112907600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:112906600-112907600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:112907200-112909200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:112909800-112911200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:112910000-112912600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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