Variant report

Variant	nsv946064
Chromosome Location	chr1:90746594-90749792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF326-2	chr1:90747857-90747905	NONHSAT004390
2	lnc-BARHL2-6	chr1:90749055-90749130	NONHSAT004391
3	lnc-ZNF326-2	chr1:90749364-90749869	NONHSAT004390

Extended variants
information (count: 102 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560177784	chr1:90746627-90746628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555893642	chr1:90746632-90746633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74099411	chr1:90746693-90746694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182988378	chr1:90746728-90746729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34154414	chr1:90746748-90746749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112190246	chr1:90746763-90746764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74099412	chr1:90746807-90746808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546503560	chr1:90746834-90746835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188016331	chr1:90746869-90746870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567173306	chr1:90746913-90746914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571274464	chr1:90746929-90746930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532138908	chr1:90746992-90746993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573239136	chr1:90746993-90746994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535667283	chr1:90746995-90746996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548117659	chr1:90747015-90747016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192430913	chr1:90747035-90747036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535463463	chr1:90747051-90747052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566653786	chr1:90747054-90747055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569885301	chr1:90747055-90747056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538605325	chr1:90747057-90747058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537149597	chr1:90747071-90747072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553018419	chr1:90747074-90747075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558584439	chr1:90747090-90747091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151017055	chr1:90747103-90747104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147255709	chr1:90747165-90747166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183855482	chr1:90747195-90747196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189300110	chr1:90747409-90747410	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140445725	chr1:90747505-90747506	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542881124	chr1:90747535-90747536	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560929836	chr1:90747541-90747542	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6669020	chr1:90747581-90747582	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150414103	chr1:90747782-90747783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564972012	chr1:90747841-90747842	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532175758	chr1:90747847-90747848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117711366	chr1:90747849-90747850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs565633801	chr1:90747854-90747855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114933862	chr1:90747862-90747863	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs548815748	chr1:90747889-90747890	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs192717239	chr1:90747893-90747894	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs537236812	chr1:90747903-90747904	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs138155112	chr1:90747938-90747939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143888794	chr1:90747963-90747964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535083572	chr1:90748006-90748007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553115302	chr1:90748024-90748025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185067761	chr1:90748031-90748032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542569029	chr1:90748035-90748036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376590110	chr1:90748042-90748043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576354792	chr1:90748054-90748055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543623111	chr1:90748072-90748073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558101796	chr1:90748141-90748142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90736200-90752000	Weak transcription	Aorta	Aorta
2	chr1:90741200-90746600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:90742000-90747200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:90743400-90746600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:90746600-90747400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:90746600-90747400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:90746800-90747400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:90747200-90748000	Enhancers	NHEK	skin
9	chr1:90747200-90748400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:90747200-90748600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:90747200-90748800	Enhancers	Fetal Lung	lung
12	chr1:90747400-90747600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:90747400-90747600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:90747400-90748000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:90747400-90748200	Enhancers	HMEC	breast
16	chr1:90747600-90747800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:90747600-90747800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:90747800-90748000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:90747800-90748000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:90747800-90748000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:90747800-90748600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:90748000-90748200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:90748000-90748400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:90748000-90748400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:90748000-90748800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:90748200-90748600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:90748400-90750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:90748400-90751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:90748400-90753000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:90748800-90750400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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