Variant report

Variant	esv1822349
Chromosome Location	chr19:21832567-21839958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 430 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2139534	chr19:21832567-21832568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189793098	chr19:21832582-21832583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8109404	chr19:21832587-21832588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147490823	chr19:21832588-21832589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77383378	chr19:21832589-21832590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386807840	chr19:21832590-21832591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201511613	chr19:21832593-21832594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377546431	chr19:21832594-21832595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370518140	chr19:21832595-21832596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202113233	chr19:21832596-21832597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2139532	chr19:21832597-21832598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201790042	chr19:21832598-21832599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200075405	chr19:21832599-21832600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73544414	chr19:21832635-21832636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112644884	chr19:21832672-21832673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200220218	chr19:21832711-21832712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79465072	chr19:21832718-21832719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77622114	chr19:21832719-21832720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66505216	chr19:21832722-21832723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74862425	chr19:21832724-21832725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548848958	chr19:21832732-21832733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2139531	chr19:21832736-21832737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73016240	chr19:21832765-21832766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67133402	chr19:21832769-21832770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75103005	chr19:21832784-21832785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190710569	chr19:21832807-21832808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67118908	chr19:21832814-21832815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs66513059	chr19:21832820-21832821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs180813215	chr19:21832829-21832830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116375084	chr19:21832844-21832845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186261670	chr19:21832871-21832872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546144135	chr19:21832875-21832876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570922834	chr19:21832921-21832922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189520838	chr19:21832923-21832924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73016243	chr19:21832930-21832931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550426774	chr19:21832931-21832932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143762628	chr19:21832938-21832939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185704844	chr19:21832939-21832940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190523873	chr19:21832940-21832941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146511378	chr19:21832959-21832960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67585015	chr19:21832960-21832961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71178736	chr19:21832961-21832962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375177874	chr19:21832962-21832963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368462824	chr19:21832963-21832964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7508279	chr19:21832973-21832974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs66562280	chr19:21833014-21833015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183084580	chr19:21833076-21833077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66519141	chr19:21833157-21833158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79652817	chr19:21833160-21833161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76387045	chr19:21833184-21833185	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21818000-21840000	Weak transcription	Pancreas	Pancrea
2	chr19:21832400-21834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:21837000-21839400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr19:21837400-21839000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr19:21837400-21839200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:21837600-21838800	ZNF genes & repeats	Dnd41	blood

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