Variant report

Variant	esv3389304
Chromosome Location	chr19:21823012-21830610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 472 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549270155	chr19:21823074-21823075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561091866	chr19:21823082-21823083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528509875	chr19:21823094-21823095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376859141	chr19:21823136-21823137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546757201	chr19:21823148-21823149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571746119	chr19:21823182-21823183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115972524	chr19:21823192-21823193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551242719	chr19:21823194-21823195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569474268	chr19:21823203-21823204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374514909	chr19:21823208-21823209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369321107	chr19:21823209-21823210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201448325	chr19:21823294-21823295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139828537	chr19:21823298-21823299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575777375	chr19:21823308-21823309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369177114	chr19:21823309-21823310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534649748	chr19:21823319-21823320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552786237	chr19:21823322-21823323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183672212	chr19:21823400-21823401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10415497	chr19:21823408-21823409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113137505	chr19:21823416-21823417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75136800	chr19:21823431-21823432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72214785	chr19:21823432-21823433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79195805	chr19:21823433-21823434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78229541	chr19:21823434-21823435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563103494	chr19:21823492-21823493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12974976	chr19:21823495-21823496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144456583	chr19:21823500-21823501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577180919	chr19:21823501-21823502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186268609	chr19:21823534-21823535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540354921	chr19:21823561-21823562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143149382	chr19:21823568-21823569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374824197	chr19:21823581-21823582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528459278	chr19:21823622-21823623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189599779	chr19:21823640-21823641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144847660	chr19:21823693-21823694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10416719	chr19:21823729-21823730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376659251	chr19:21823753-21823754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10416553	chr19:21823771-21823772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113311976	chr19:21823790-21823791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10418097	chr19:21823792-21823793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564780153	chr19:21823806-21823807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10416598	chr19:21823852-21823853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113698232	chr19:21823858-21823859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547101232	chr19:21823876-21823877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566726609	chr19:21823897-21823898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370780022	chr19:21823910-21823911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182251792	chr19:21823927-21823928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148578206	chr19:21823928-21823929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10418334	chr19:21823931-21823932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113083429	chr19:21823939-21823940	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
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21817200-21827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:21817400-21827200	Weak transcription	Fetal Intestine Small	intestine
3	chr19:21818000-21840000	Weak transcription	Pancreas	Pancrea
4	chr19:21829800-21830600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr19:21830600-21831800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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