Variant report

Variant	esv3330113
Chromosome Location	chr19:22579012-22584210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs553274353	chr19:22579606-22579607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577794658	chr19:22579645-22579646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538882141	chr19:22579679-22579680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192794719	chr19:22579696-22579697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576135713	chr19:22579712-22579713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184336326	chr19:22579756-22579757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558747233	chr19:22579777-22579778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201477263	chr19:22579798-22579799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561687644	chr19:22579799-22579800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573697245	chr19:22579847-22579848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371698742	chr19:22579920-22579921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541301860	chr19:22579927-22579928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564113840	chr19:22579929-22579930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202199468	chr19:22579932-22579933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200328712	chr19:22579933-22579934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559709054	chr19:22579936-22579937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397955764	chr19:22579942-22579943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368923807	chr19:22579943-22579944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146742672	chr19:22579951-22579952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189957538	chr19:22579992-22579993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563626673	chr19:22580008-22580009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76113688	chr19:22580011-22580012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201036067	chr19:22580012-22580013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368992859	chr19:22580014-22580015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200139534	chr19:22580015-22580016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200227006	chr19:22580016-22580017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3084811	chr19:22580037-22580038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201357574	chr19:22580038-22580039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376921923	chr19:22580043-22580044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181154523	chr19:22580076-22580077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550935325	chr19:22580133-22580134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2957830	chr19:22580137-22580138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549218657	chr19:22580231-22580232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567287595	chr19:22580233-22580234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534725714	chr19:22580239-22580240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570914925	chr19:22580247-22580248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373985876	chr19:22580287-22580288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199755971	chr19:22580333-22580334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200632464	chr19:22580334-22580335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185953167	chr19:22580335-22580336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571649137	chr19:22580395-22580396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538846444	chr19:22580434-22580435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201670491	chr19:22580441-22580442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367899043	chr19:22580542-22580543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371638701	chr19:22580552-22580553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2957833	chr19:22580613-22580614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557485012	chr19:22580668-22580669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188759472	chr19:22580731-22580732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537117263	chr19:22580743-22580744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555190523	chr19:22580769-22580770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22579600-22582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:22582600-22583000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:22582800-22583200	ZNF genes & repeats	Ovary	ovary
4	chr19:22583200-22588600	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links