Variant report

Variant	nsv578988
Chromosome Location	chr19:23129559-23153750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs467101	chr19:23129559-23129560	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572215221	chr19:23129587-23129588	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560670218	chr19:23129590-23129591	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564428564	chr19:23129612-23129613	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs531530832	chr19:23129619-23129620	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543001155	chr19:23129686-23129687	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185673293	chr19:23129959-23129960	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528954667	chr19:23129970-23129971	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547469245	chr19:23129984-23129985	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574244189	chr19:23129992-23129993	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190580123	chr19:23129994-23129995	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192475853	chr19:23129998-23129999	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34605644	chr19:23130014-23130015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs386808034	chr19:23130015-23130016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs199744566	chr19:23130016-23130017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs35976320	chr19:23130017-23130018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188678907	chr19:23130089-23130090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs79324043	chr19:23130102-23130103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs457149	chr19:23130113-23130114	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181118377	chr19:23130114-23130115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186153380	chr19:23130117-23130118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs148507605	chr19:23130126-23130127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539600477	chr19:23130135-23130136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531282847	chr19:23130185-23130186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142242195	chr19:23130197-23130198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs189873623	chr19:23130226-23130227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74351051	chr19:23130244-23130245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74918658	chr19:23130245-23130246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545019895	chr19:23130252-23130253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs564689836	chr19:23130276-23130277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573309002	chr19:23130372-23130373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540733529	chr19:23130378-23130379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs150800693	chr19:23130382-23130383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs466223	chr19:23130395-23130396	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs181721345	chr19:23130396-23130397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs139175177	chr19:23130416-23130417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567216043	chr19:23130418-23130419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs461390	chr19:23130419-23130420	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549089395	chr19:23130484-23130485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs558176157	chr19:23130499-23130500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374806223	chr19:23130500-23130501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549709121	chr19:23130532-23130533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567630904	chr19:23130533-23130534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535041403	chr19:23130540-23130541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546707876	chr19:23130570-23130571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187387622	chr19:23130581-23130582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537383978	chr19:23130589-23130590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs138187292	chr19:23132430-23132431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149563543	chr19:23132468-23132469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569723574	chr19:23132469-23132470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23126600-23130000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:23127400-23129600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:23128000-23129800	ZNF genes & repeats	Liver	Liver
4	chr19:23128000-23130600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:23128000-23130600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:23129400-23130000	Active TSS	Right Atrium	heart
7	chr19:23132400-23133000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:23132400-23133200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:23153400-23153800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links