Variant report

Variant	nsv526148
Chromosome Location	chr1:56101597-56146450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56119054..56121303-chr1:56122275..56124913,2	K562	blood:
2	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:
3	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:
4	chr1:56137224..56139616-chr1:56156746..56159633,2	K562	blood:
5	chr1:56119054..56121303-chr1:56122275..56124913,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCSK9-8	chr1:56106359-56106509	NONHSAT003418

Extended variants
information (count: 1915 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1915 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1392138	chr1:56101597-56101598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561656109	chr1:56101647-56101648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535023863	chr1:56101730-56101731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114963182	chr1:56101742-56101743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375007956	chr1:56101752-56101753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1392139	chr1:56101775-56101776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544001427	chr1:56101798-56101799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1392140	chr1:56101822-56101823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs574215728	chr1:56101829-56101830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543029621	chr1:56101835-56101836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559827947	chr1:56101836-56101837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528741957	chr1:56101866-56101867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547666566	chr1:56101867-56101868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564416249	chr1:56101900-56101901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6689891	chr1:56101914-56101915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549969438	chr1:56101930-56101931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569627878	chr1:56101946-56101947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114032747	chr1:56101959-56101960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs118008175	chr1:56101968-56101969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17418151	chr1:56102010-56102011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs1499676	chr1:56102040-56102041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558124539	chr1:56102052-56102053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550440471	chr1:56102055-56102056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368490485	chr1:56102058-56102059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372218310	chr1:56102169-56102170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568561027	chr1:56102191-56102192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578215133	chr1:56102238-56102239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537229464	chr1:56102258-56102259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557568402	chr1:56102308-56102309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377004855	chr1:56102349-56102350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191816812	chr1:56102351-56102352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376351283	chr1:56102427-56102428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17112535	chr1:56102450-56102451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139160537	chr1:56102480-56102481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183039457	chr1:56102481-56102482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554156807	chr1:56102533-56102534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533285589	chr1:56102540-56102541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543235386	chr1:56102548-56102549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563182759	chr1:56102555-56102556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528950460	chr1:56102562-56102563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7556143	chr1:56102575-56102576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539019462	chr1:56102584-56102585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550709918	chr1:56102590-56102591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368954296	chr1:56102699-56102700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565444738	chr1:56102720-56102721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs769995	chr1:56102749-56102750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76348173	chr1:56102757-56102758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146827770	chr1:56102778-56102779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537790860	chr1:56102812-56102813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115670238	chr1:56102843-56102844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56089000-56104000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56096000-56103400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:56096800-56102800	Enhancers	Osteobl	bone
4	chr1:56097000-56103000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:56097000-56103400	Enhancers	NHDF-Ad	bronchial
6	chr1:56098000-56101800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:56098400-56102200	Enhancers	NHLF	lung
8	chr1:56098800-56105800	Weak transcription	Fetal Stomach	stomach
9	chr1:56099000-56105200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:56099000-56106600	Weak transcription	Ovary	ovary
11	chr1:56099200-56105800	Weak transcription	Fetal Kidney	kidney
12	chr1:56099400-56101600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:56099600-56101800	Enhancers	Aorta	Aorta
14	chr1:56100000-56102600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:56100600-56101600	Weak transcription	Fetal Lung	lung
16	chr1:56100600-56102400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:56100600-56106600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:56100800-56102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:56100800-56104800	Weak transcription	Hela-S3	cervix
20	chr1:56100800-56106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:56101200-56104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:56101200-56105000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:56101200-56105800	Weak transcription	Psoas Muscle	Psoas
24	chr1:56101600-56101800	Enhancers	Fetal Lung	lung
25	chr1:56101600-56101800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:56101800-56102200	Weak transcription	Aorta	Aorta
27	chr1:56101800-56102200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:56101800-56106600	Weak transcription	Fetal Lung	lung
29	chr1:56102200-56102400	Enhancers	Aorta	Aorta
30	chr1:56102200-56102400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:56102200-56106000	Weak transcription	NHLF	lung
32	chr1:56102400-56105200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:56102400-56106000	Weak transcription	Aorta	Aorta
34	chr1:56102400-56106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:56102600-56105800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:56102800-56105000	Weak transcription	Osteobl	bone
37	chr1:56103000-56106400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:56103200-56103400	Enhancers	Gastric	stomach
39	chr1:56103400-56106000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:56103400-56106400	Weak transcription	NHDF-Ad	bronchial
41	chr1:56103400-56107000	Weak transcription	Gastric	stomach
42	chr1:56103800-56104800	Enhancers	Fetal Heart	heart
43	chr1:56104000-56105600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:56104200-56106400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:56104600-56104800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr1:56104600-56107000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:56104600-56107200	Enhancers	NHEK	skin
48	chr1:56104800-56105200	Enhancers	Hela-S3	cervix
49	chr1:56104800-56105400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:56104800-56106400	Enhancers	HMEC	breast

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