Variant report

Variant	esv3506977
Chromosome Location	chr19:19802095-19802762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19772412..19775307-chr19:19800186..19802110,2	K562	blood:

Variant related genes	Relation type
ENSG00000105726	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 46 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151051219	chr19:19802157-19802158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552673377	chr19:19802158-19802159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147097368	chr19:19802163-19802164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536816185	chr19:19802164-19802165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557133547	chr19:19802194-19802195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577165940	chr19:19802208-19802209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140339592	chr19:19802223-19802224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535442821	chr19:19802238-19802239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12973774	chr19:19802249-19802250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12973777	chr19:19802257-19802258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544163125	chr19:19802259-19802260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561925549	chr19:19802263-19802264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185436914	chr19:19802272-19802273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577931223	chr19:19802312-19802313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540379979	chr19:19802316-19802317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559893529	chr19:19802329-19802330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577312839	chr19:19802336-19802337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375713433	chr19:19802337-19802338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528566864	chr19:19802344-19802345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59081286	chr19:19802349-19802350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112162690	chr19:19802366-19802367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572508755	chr19:19802398-19802399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190251925	chr19:19802404-19802405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141831412	chr19:19802417-19802418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146462698	chr19:19802437-19802438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373742941	chr19:19802459-19802460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550881779	chr19:19802469-19802470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11668103	chr19:19802470-19802471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533353056	chr19:19802491-19802492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543613065	chr19:19802542-19802543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11668053	chr19:19802565-19802566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566272325	chr19:19802569-19802570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11668131	chr19:19802570-19802571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548996013	chr19:19802578-19802579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182822226	chr19:19802599-19802600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140784126	chr19:19802603-19802604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558084532	chr19:19802605-19802606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577967880	chr19:19802610-19802611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534018242	chr19:19802611-19802612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554007870	chr19:19802612-19802613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186865147	chr19:19802613-19802614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114872397	chr19:19802638-19802639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562180228	chr19:19802652-19802653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565321301	chr19:19802665-19802666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12974886	chr19:19802672-19802673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544154121	chr19:19802689-19802690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192156661	chr19:19802698-19802699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568027127	chr19:19802699-19802700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368742427	chr19:19802739-19802740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183916602	chr19:19802741-19802742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	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
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19791200-19816800	Weak transcription	Right Ventricle	heart
2	chr19:19791600-19810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:19792400-19810000	Weak transcription	Ovary	ovary
4	chr19:19795400-19811200	Weak transcription	Dnd41	blood

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