Variant report

Variant	nsv518685
Chromosome Location	chr19:22693596-22696701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2915928	chr19:22693596-22693597	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576257490	chr19:22693617-22693618	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141116911	chr19:22693621-22693622	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562201898	chr19:22693637-22693638	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574045402	chr19:22693690-22693691	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541441643	chr19:22693716-22693717	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559470174	chr19:22693749-22693750	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371203607	chr19:22693759-22693760	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2915927	chr19:22693766-22693767	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs117590253	chr19:22693778-22693779	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576661288	chr19:22693827-22693828	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549157076	chr19:22693828-22693829	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116842211	chr19:22693926-22693927	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535180270	chr19:22693954-22693955	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547404129	chr19:22693997-22693998	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565511517	chr19:22694001-22694002	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539748112	chr19:22694003-22694004	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558043444	chr19:22694023-22694024	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569955892	chr19:22694045-22694046	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537288619	chr19:22694057-22694058	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563865939	chr19:22694062-22694063	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2915926	chr19:22694081-22694082	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556919524	chr19:22694171-22694172	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574109221	chr19:22694173-22694174	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575372221	chr19:22694206-22694207	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545687792	chr19:22694224-22694225	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541134297	chr19:22694231-22694232	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553355925	chr19:22694242-22694243	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180909687	chr19:22694259-22694260	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559157533	chr19:22694279-22694280	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184975445	chr19:22694304-22694305	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2915925	chr19:22694363-22694364	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531108623	chr19:22694378-22694379	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542841820	chr19:22694414-22694415	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190117828	chr19:22694436-22694437	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564306077	chr19:22694449-22694450	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138611879	chr19:22694471-22694472	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529005585	chr19:22694498-22694499	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547129371	chr19:22694547-22694548	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149293333	chr19:22694557-22694558	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532997516	chr19:22694572-22694573	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182808025	chr19:22694573-22694574	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551391764	chr19:22694592-22694593	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77157173	chr19:22694604-22694605	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186507035	chr19:22694605-22694606	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113974422	chr19:22694644-22694645	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191784806	chr19:22694645-22694646	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535124441	chr19:22694656-22694657	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77602572	chr19:22694675-22694676	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183584460	chr19:22694723-22694724	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22674800-22698000	ZNF genes & repeats	Ovary	ovary
2	chr19:22675000-22699400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:22685000-22698200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:22691600-22694000	ZNF genes & repeats	Aorta	Aorta
5	chr19:22691800-22697800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:22692000-22698400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:22692600-22698000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr19:22692800-22696800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:22692800-22698000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:22693000-22694800	Strong transcription	Pancreas	Pancrea
11	chr19:22693600-22694200	ZNF genes & repeats	Gastric	stomach
12	chr19:22693600-22694600	ZNF genes & repeats	Fetal Lung	lung
13	chr19:22694400-22694600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr19:22694800-22695200	Weak transcription	Pancreas	Pancrea
15	chr19:22695000-22697400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr19:22695200-22695800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr19:22695200-22697000	Enhancers	Pancreas	Pancrea
18	chr19:22695200-22700400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:22695800-22696200	Active TSS	Primary T cells from cord blood	blood
20	chr19:22695800-22698000	ZNF genes & repeats	Gastric	stomach
21	chr19:22695800-22698200	ZNF genes & repeats	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links