Variant report

Variant	nsv9683
Chromosome Location	chr19:22834307-22836094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574682603	chr19:22834332-22834333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563798144	chr19:22834341-22834342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574442200	chr19:22834347-22834348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535117534	chr19:22834356-22834357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2099341	chr19:22834360-22834361	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs572299479	chr19:22834384-22834385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115262905	chr19:22834448-22834449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557557357	chr19:22834451-22834452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575851770	chr19:22834464-22834465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557136002	chr19:22834470-22834471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2082444	chr19:22834514-22834515	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2361245	chr19:22834530-22834531	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs2082445	chr19:22834587-22834588	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs559056915	chr19:22834608-22834609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541111854	chr19:22834617-22834618	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528115332	chr19:22834635-22834636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2082446	chr19:22834639-22834640	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs3033251	chr19:22834649-22834650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs397742947	chr19:22834661-22834662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533491632	chr19:22834740-22834741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150537350	chr19:22834835-22834836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570336423	chr19:22834916-22834917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141101385	chr19:22834917-22834918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189934813	chr19:22834921-22834922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs60835358	chr19:22834973-22834974	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs59051481	chr19:22835040-22835041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549561861	chr19:22835046-22835047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568069013	chr19:22835098-22835099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570676099	chr19:22835137-22835138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28782605	chr19:22835149-22835150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553518949	chr19:22835179-22835180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565646393	chr19:22835181-22835182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111885654	chr19:22835190-22835191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539017483	chr19:22835220-22835221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182505522	chr19:22835236-22835237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575891283	chr19:22835267-22835268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543215751	chr19:22835421-22835422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78448667	chr19:22835459-22835460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185550436	chr19:22835467-22835468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574090603	chr19:22835493-22835494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74910935	chr19:22835507-22835508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs601404	chr19:22835523-22835524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74753276	chr19:22835538-22835539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545388075	chr19:22835542-22835543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10413960	chr19:22835545-22835546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563982612	chr19:22835559-22835560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146625109	chr19:22835570-22835571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75765295	chr19:22835573-22835574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567840721	chr19:22835582-22835583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372685608	chr19:22835592-22835593	Weak 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22831200-22835000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:22832000-22834600	ZNF genes & repeats	Dnd41	blood
3	chr19:22832800-22834600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:22832800-22835000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:22833000-22834400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:22833200-22835000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:22834200-22839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:22834600-22835000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:22834600-22839200	Weak transcription	Dnd41	blood
10	chr19:22835000-22839200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr19:22835000-22844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:22835400-22836800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:22835800-22836000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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