Variant report

Variant	nsv960879
Chromosome Location	chr19:56755546-56758358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537627662	chr19:56755548-56755549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375611551	chr19:56755549-56755550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11665987	chr19:56755560-56755561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374074625	chr19:56755561-56755562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539896358	chr19:56755562-56755563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61741090	chr19:56755570-56755571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202218184	chr19:56755571-56755572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139065000	chr19:56755574-56755575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563177710	chr19:56755582-56755583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532017306	chr19:56755637-56755638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548917225	chr19:56755646-56755647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201477352	chr19:56755669-56755670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199499860	chr19:56755697-56755698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527889869	chr19:56755702-56755703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547863937	chr19:56755725-56755726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570894767	chr19:56755727-56755728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539805357	chr19:56755732-56755733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549935927	chr19:56755733-56755734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569736159	chr19:56755736-56755737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4801693	chr19:56755770-56755771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567219680	chr19:56755784-56755785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554447615	chr19:56755806-56755807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536359770	chr19:56755811-56755812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28641657	chr19:56755815-56755816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376229262	chr19:56755817-56755818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375155592	chr19:56755845-56755846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11670659	chr19:56755851-56755852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574291197	chr19:56755852-56755853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111429542	chr19:56755867-56755868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533777461	chr19:56755874-56755875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558881513	chr19:56755877-56755878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576895949	chr19:56755893-56755894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12610291	chr19:56755898-56755899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4801694	chr19:56755899-56755900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28493243	chr19:56755924-56755925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs28573374	chr19:56755927-56755928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555026068	chr19:56755948-56755949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201780658	chr19:56755966-56755967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57532903	chr19:56755967-56755968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55752708	chr19:56755976-56755977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11670697	chr19:56755986-56755987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72490753	chr19:56755987-56755988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369428809	chr19:56755997-56755998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189012405	chr19:56756003-56756004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372912409	chr19:56756004-56756005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182008929	chr19:56756006-56756007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370573047	chr19:56756016-56756017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11670731	chr19:56756022-56756023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28630517	chr19:56756037-56756038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55885127	chr19:56756047-56756048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56734600-56756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:56735400-56774400	Weak transcription	Primary T cells from cord blood	blood
4	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:56751000-56776400	Weak transcription	Lung	lung
6	chr19:56752800-56758600	Weak transcription	Hela-S3	cervix
7	chr19:56753000-56809000	Weak transcription	Gastric	stomach
8	chr19:56755400-56756400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:56756200-56756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:56756400-56756600	Enhancers	HSMM	muscle
11	chr19:56756400-56757000	Enhancers	HSMMtube	muscle
12	chr19:56756400-56757200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:56756400-56757200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:56756400-56757600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:56756600-56757000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:56756600-56757000	Flanking Active TSS	HSMM	muscle
17	chr19:56756600-56757000	Enhancers	NH-A	brain
18	chr19:56756600-56757200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr19:56756600-56757200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:56756600-56757200	Enhancers	HMEC	breast
21	chr19:56756600-56757200	Enhancers	NHEK	skin
22	chr19:56756600-56757200	Enhancers	Osteobl	bone
23	chr19:56756600-56757400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:56756800-56757800	Enhancers	K562	blood
25	chr19:56757000-56757200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:56757000-56757400	Enhancers	HSMM	muscle
27	chr19:56757000-56763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:56757800-56760000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links