Variant report

Variant	esv3403310
Chromosome Location	chr19:22373062-22374160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185643964	chr19:22373126-22373127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190502927	chr19:22373130-22373131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559147277	chr19:22373133-22373134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533031076	chr19:22373183-22373184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116865559	chr19:22373184-22373185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577551244	chr19:22373192-22373193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180842717	chr19:22373266-22373267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185253017	chr19:22373268-22373269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188114173	chr19:22373293-22373294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181306765	chr19:22373295-22373296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10417143	chr19:22373303-22373304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs566875680	chr19:22373342-22373343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370944328	chr19:22373362-22373363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149007928	chr19:22373413-22373414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74174059	chr19:22373432-22373433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569678426	chr19:22373433-22373434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375647927	chr19:22373440-22373441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368577582	chr19:22373441-22373442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370821424	chr19:22373443-22373444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374177060	chr19:22373447-22373448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71180521	chr19:22373467-22373468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12979315	chr19:22373468-22373469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72283278	chr19:22373469-22373470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2021560	chr19:22373470-22373471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs7508401	chr19:22373482-22373483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539103896	chr19:22373504-22373505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201197627	chr19:22373535-22373536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374299535	chr19:22373606-22373607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550844681	chr19:22373658-22373659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568904708	chr19:22373690-22373691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370585651	chr19:22373698-22373699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191664836	chr19:22373768-22373769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554811569	chr19:22373786-22373787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556263744	chr19:22373799-22373800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4371283	chr19:22373810-22373811	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs143796725	chr19:22373816-22373817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183510035	chr19:22373817-22373818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs4614861	chr19:22373841-22373842	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs563382672	chr19:22373889-22373890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs187210032	chr19:22373892-22373893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112294993	chr19:22373901-22373902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192106848	chr19:22373907-22373908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs1918162	chr19:22373949-22373950	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs183366719	chr19:22373968-22373969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs576454511	chr19:22373974-22373975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573939932	chr19:22373991-22373992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs565088256	chr19:22373999-22374000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368875102	chr19:22374009-22374010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186957536	chr19:22374014-22374015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551003772	chr19:22374015-22374016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22368000-22373800	Weak transcription	Left Ventricle	heart
2	chr19:22368200-22374000	Weak transcription	Aorta	Aorta
3	chr19:22373800-22374200	ZNF genes & repeats	Left Ventricle	heart
4	chr19:22374000-22374600	ZNF genes & repeats	Aorta	Aorta
5	chr19:22374000-22374800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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