Variant report

Variant	esv2646605
Chromosome Location	chr1:56061221-56062755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCSK9-8	chr1:56062068-56062162	NONHSAT003418

Extended variants
information (count: 86 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563441838	chr1:56061228-56061229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538231304	chr1:56061235-56061236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71637897	chr1:56061269-56061270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567041844	chr1:56061302-56061303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs769985	chr1:56061326-56061327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549002709	chr1:56061344-56061345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564113895	chr1:56061371-56061372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187533347	chr1:56061372-56061373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370242445	chr1:56061379-56061380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569293868	chr1:56061381-56061382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1913445	chr1:56061436-56061437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554955039	chr1:56061466-56061467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574906364	chr1:56061472-56061473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369139047	chr1:56061510-56061511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35473320	chr1:56061529-56061530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369554444	chr1:56061530-56061531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141246222	chr1:56061598-56061599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192862618	chr1:56061629-56061630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572968107	chr1:56061642-56061643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544919588	chr1:56061670-56061671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185028929	chr1:56061706-56061707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189654553	chr1:56061728-56061729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543925952	chr1:56061735-56061736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368248337	chr1:56061750-56061751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143228242	chr1:56061793-56061794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181187925	chr1:56061854-56061855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183794293	chr1:56061879-56061880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560668801	chr1:56061898-56061899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs769986	chr1:56061951-56061952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552455830	chr1:56061989-56061990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57303908	chr1:56061990-56061991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569478315	chr1:56061995-56061996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397746000	chr1:56062001-56062002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201716141	chr1:56062002-56062003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188238376	chr1:56062013-56062014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34388091	chr1:56062014-56062015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538313707	chr1:56062020-56062021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10749701	chr1:56062042-56062043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114809957	chr1:56062062-56062063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10789005	chr1:56062104-56062105	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10789006	chr1:56062113-56062114	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111582244	chr1:56062123-56062124	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs11206629	chr1:56062143-56062144	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577974960	chr1:56062155-56062156	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182065243	chr1:56062164-56062165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148386576	chr1:56062170-56062171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551439223	chr1:56062174-56062175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150469871	chr1:56062185-56062186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370195175	chr1:56062208-56062209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575114981	chr1:56062217-56062218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Soft tissue tumor	16732325	CNVD
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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Cancer	17160897	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
Gastric adenocarcinoma	19115996	CNVD
Parathyroid adenoma	22454399	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56056000-56066000	Weak transcription	Fetal Lung	lung
2	chr1:56056200-56062400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:56059600-56076000	Weak transcription	Aorta	Aorta
4	chr1:56062400-56063200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links