Variant report

Variant	nsv822731
Chromosome Location	chr1:57448358-57449388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181638907	chr1:57448369-57448370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372571784	chr1:57448398-57448399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1630507	chr1:57448453-57448454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs1754525	chr1:57448474-57448475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs1630438	chr1:57448484-57448485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs149482686	chr1:57448539-57448540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143952529	chr1:57448567-57448568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566863703	chr1:57448609-57448610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72917455	chr1:57448623-57448624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs375250713	chr1:57448632-57448633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186254379	chr1:57448673-57448674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148549186	chr1:57448681-57448682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138232686	chr1:57448691-57448692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146622826	chr1:57448692-57448693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376086158	chr1:57448698-57448699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398102742	chr1:57448704-57448705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199841661	chr1:57448705-57448706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200829947	chr1:57448707-57448708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201994678	chr1:57448709-57448710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554893268	chr1:57448721-57448722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574672724	chr1:57448723-57448724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369287597	chr1:57448738-57448739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11206944	chr1:57448751-57448752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112740244	chr1:57448755-57448756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371802028	chr1:57448766-57448767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5774321	chr1:57448781-57448782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71990799	chr1:57448794-57448795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12033470	chr1:57448798-57448799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71246215	chr1:57448804-57448805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191037955	chr1:57448805-57448806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375795344	chr1:57448808-57448809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111899186	chr1:57448812-57448813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534163862	chr1:57448819-57448820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553796614	chr1:57448821-57448822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35981899	chr1:57448863-57448864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182373390	chr1:57448885-57448886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2480410	chr1:57448901-57448902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs576152429	chr1:57448904-57448905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2480411	chr1:57448920-57448921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs2480412	chr1:57448923-57448924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs12404605	chr1:57448943-57448944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187871394	chr1:57448963-57448964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191060053	chr1:57448996-57448997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547292805	chr1:57449053-57449054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560585729	chr1:57449147-57449148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2796227	chr1:57449164-57449165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs552683029	chr1:57449172-57449173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183321892	chr1:57449183-57449184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537879312	chr1:57449190-57449191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2796228	chr1:57449204-57449205	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57440400-57452600	Weak transcription	Liver	Liver
2	chr1:57449000-57449200	Enhancers	HepG2	liver
3	chr1:57449200-57449800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57449200-57451200	Weak transcription	HepG2	liver

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