Variant report

Variant	nsv972533
Chromosome Location	chr8:112531439-112546148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 264 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531903903	chr8:112538693-112538694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548637359	chr8:112538694-112538695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562386969	chr8:112538713-112538714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs143988218	chr8:112538759-112538760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74746845	chr8:112538771-112538772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570073719	chr8:112538773-112538774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545201950	chr8:112538808-112538809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111930495	chr8:112538815-112538816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539150338	chr8:112538816-112538817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2352158	chr8:112538839-112538840	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148640171	chr8:112538856-112538857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527401692	chr8:112538883-112538884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs555400911	chr8:112538888-112538889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572301969	chr8:112538953-112538954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34543606	chr8:112538957-112538958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534226220	chr8:112538994-112538995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556035410	chr8:112538997-112538998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs28681647	chr8:112539078-112539079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116258997	chr8:112539092-112539093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143258535	chr8:112539109-112539110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146678639	chr8:112539142-112539143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139068944	chr8:112539215-112539216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73707906	chr8:112539225-112539226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562288582	chr8:112539305-112539306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144541219	chr8:112539325-112539326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200141499	chr8:112539327-112539328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184643263	chr8:112539337-112539338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73326091	chr8:112539345-112539346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190312848	chr8:112539410-112539411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1160551	chr8:112539456-112539457	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181404331	chr8:112539457-112539458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569710154	chr8:112539458-112539459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529123129	chr8:112539459-112539460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549151624	chr8:112539500-112539501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28682951	chr8:112539516-112539517	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186258759	chr8:112539529-112539530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558053974	chr8:112539541-112539542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28431296	chr8:112539553-112539554	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539822602	chr8:112539578-112539579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556429628	chr8:112539642-112539643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28712168	chr8:112539654-112539655	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74771992	chr8:112539673-112539674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555931651	chr8:112539693-112539694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112040011	chr8:112539698-112539699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572519799	chr8:112539738-112539739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541343455	chr8:112539744-112539745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189301059	chr8:112539747-112539748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28579296	chr8:112539793-112539794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543009575	chr8:112539816-112539817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534786869	chr8:112539829-112539830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112538600-112539000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:112539000-112544000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:112539200-112540000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:112544000-112544600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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