Variant report

Variant	esv3404363
Chromosome Location	chr19:21829212-21830210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140233337	chr19:21829230-21829231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529107591	chr19:21829234-21829235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71178729	chr19:21829238-21829239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143487026	chr19:21829239-21829240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547353412	chr19:21829245-21829246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186628441	chr19:21829251-21829252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533143755	chr19:21829253-21829254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564152806	chr19:21829277-21829278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62108456	chr19:21829282-21829283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187435490	chr19:21829291-21829292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551405954	chr19:21829328-21829329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142447105	chr19:21829386-21829387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs68051125	chr19:21829422-21829423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148898860	chr19:21829423-21829424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151053931	chr19:21829424-21829425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75856203	chr19:21829434-21829435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145828414	chr19:21829438-21829439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62108457	chr19:21829439-21829440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76668964	chr19:21829454-21829455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75650657	chr19:21829455-21829456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569715976	chr19:21829456-21829457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537117639	chr19:21829466-21829467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71333844	chr19:21829471-21829472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77447989	chr19:21829486-21829487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7257929	chr19:21829488-21829489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567739075	chr19:21829511-21829512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71333845	chr19:21829517-21829518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs67610934	chr19:21829529-21829530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535259116	chr19:21829540-21829541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71333846	chr19:21829541-21829542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7257314	chr19:21829542-21829543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs66685805	chr19:21829568-21829569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184630308	chr19:21829570-21829571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539346484	chr19:21829577-21829578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557746927	chr19:21829578-21829579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79187379	chr19:21829581-21829582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76012427	chr19:21829582-21829583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576259115	chr19:21829583-21829584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376111811	chr19:21829584-21829585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71178730	chr19:21829599-21829600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74408820	chr19:21829600-21829601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138695310	chr19:21829610-21829611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71333847	chr19:21829611-21829612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111855430	chr19:21829617-21829618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71333848	chr19:21829621-21829622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs67600503	chr19:21829664-21829665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs66955447	chr19:21829667-21829668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148326999	chr19:21829676-21829677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368403670	chr19:21829679-21829680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142080099	chr19:21829680-21829681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21818000-21840000	Weak transcription	Pancreas	Pancrea
2	chr19:21829800-21830600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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