Variant report

Variant	esv3337721
Chromosome Location	chr19:23228341-23235867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF724P-1	chr19:23229875-23229898	NONHSAT063848
2	lnc-ZNF724P-1	chr19:23229760-23229898	ENSG00000261615.2

Extended variants
information (count: 203 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146871814	chr19:23229834-23229835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553942753	chr19:23229844-23229845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs189675580	chr19:23231206-23231207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374991199	chr19:23231263-23231264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557630138	chr19:23231282-23231283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs73027648	chr19:23231338-23231339	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543371352	chr19:23231390-23231391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs151105572	chr19:23231392-23231393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs1381880	chr19:23231399-23231400	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565336100	chr19:23231411-23231412	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7260403	chr19:23231416-23231417	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532477663	chr19:23231417-23231418	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551149863	chr19:23231450-23231451	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141052252	chr19:23231510-23231511	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371228929	chr19:23231602-23231603	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs530692214	chr19:23231609-23231610	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs549292858	chr19:23231623-23231624	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567464888	chr19:23231698-23231699	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115463736	chr19:23231762-23231763	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538032481	chr19:23231767-23231768	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546281008	chr19:23231787-23231788	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79656543	chr19:23231811-23231812	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538787899	chr19:23231846-23231847	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557567100	chr19:23231891-23231892	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145092597	chr19:23231897-23231898	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371510355	chr19:23231913-23231914	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs377276948	chr19:23231939-23231940	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536856020	chr19:23231963-23231964	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs17490011	chr19:23231968-23231969	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17568534	chr19:23231970-23231971	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs540578187	chr19:23231991-23231992	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78179597	chr19:23232026-23232027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116652889	chr19:23232092-23232093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181755468	chr19:23232096-23232097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138888378	chr19:23232102-23232103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140597233	chr19:23232121-23232122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565104694	chr19:23232150-23232151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145659487	chr19:23232176-23232177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561188856	chr19:23232196-23232197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528416872	chr19:23232207-23232208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs67098980	chr19:23232208-23232209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571292852	chr19:23232217-23232218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186840680	chr19:23232225-23232226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553303098	chr19:23232256-23232257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550662930	chr19:23232261-23232262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568997720	chr19:23232309-23232310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138150210	chr19:23232324-23232325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116071542	chr19:23232367-23232368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149552455	chr19:23232448-23232449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144629465	chr19:23232458-23232459	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23231200-23232000	ZNF genes & repeats	Pancreas	Pancrea
2	chr19:23231400-23232800	Enhancers	Placenta	Placenta
3	chr19:23232800-23235000	Weak transcription	Placenta	Placenta
4	chr19:23235000-23235800	Enhancers	Placenta	Placenta
5	chr19:23235800-23237200	Weak transcription	Placenta	Placenta

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