Variant report

Variant	nsv1002316
Chromosome Location	chr1:73786228-73816564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73798827..73801805-chr6:86383227..86385872,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-3	chr1:73813817-73813934	XLOC_000256
2	lnc-FPGT-3	chr1:73813817-73813995	XLOC_000256
3	lnc-FPGT-3	chr1:73801129-73804559	XLOC_000256
4	lnc-FPGT-3	chr1:73813817-73813975	XLOC_000256
5	lnc-FPGT-3	chr1:73813816-73813995	NONHSAT003934
6	lnc-FPGT-3	chr1:73801129-73804560	ENSG00000233973

No data

Extended variants
information (count: 274 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:274 , 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	rs1923205	chr1:73792841-73792842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542285928	chr1:73792842-73792843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199989404	chr1:73792859-73792860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555834336	chr1:73792881-73792882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575700368	chr1:73792922-73792923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180936556	chr1:73792932-73792933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185419442	chr1:73792934-73792935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533216244	chr1:73792958-73792959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540073151	chr1:73792980-73792981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575078892	chr1:73792981-73792982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533241830	chr1:73792990-73792991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371857547	chr1:73792993-73792994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560267738	chr1:73793015-73793016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115251646	chr1:73793019-73793020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548657068	chr1:73793073-73793074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562188940	chr1:73793078-73793079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531207415	chr1:73793105-73793106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550920954	chr1:73793160-73793161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571073142	chr1:73793162-73793163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149125736	chr1:73793179-73793180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370478729	chr1:73793195-73793196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190722620	chr1:73793198-73793199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11210209	chr1:73793245-73793246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142297499	chr1:73793246-73793247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181959898	chr1:73793286-73793287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575762416	chr1:73793293-73793294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560721464	chr1:73793336-73793337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538254851	chr1:73793356-73793357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75140796	chr1:73793385-73793386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185795795	chr1:73793418-73793419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147954327	chr1:73793430-73793431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560127146	chr1:73793470-73793471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573774248	chr1:73793479-73793480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190648872	chr1:73793487-73793488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1885246	chr1:73793499-73793500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531271747	chr1:73793518-73793519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61767375	chr1:73793539-73793540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564874714	chr1:73793545-73793546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141891970	chr1:73793553-73793554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547264201	chr1:73793557-73793558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567002252	chr1:73793620-73793621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1885247	chr1:73793630-73793631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549558154	chr1:73793636-73793637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147081961	chr1:73793686-73793687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181182718	chr1:73793689-73793690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557897428	chr1:73793713-73793714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577958948	chr1:73793726-73793727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72956357	chr1:73793728-73793729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138452748	chr1:73793740-73793741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573555241	chr1:73793769-73793770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
Papillary thyroid carcinoma	21436994	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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73792800-73795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:73799400-73800200	Enhancers	Liver	Liver
3	chr1:73799600-73800000	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:73809800-73810200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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