Variant report

Variant	nsv579110
Chromosome Location	chr19:24593777-24618241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1815 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:1815 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10048484	chr19:24593777-24593778	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568034619	chr19:24593781-24593782	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535460670	chr19:24593792-24593793	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375836945	chr19:24593794-24593795	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112888751	chr19:24593806-24593807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113330479	chr19:24593809-24593810	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs11526103	chr19:24593815-24593816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553892620	chr19:24593825-24593826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572076499	chr19:24593826-24593827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539619167	chr19:24593836-24593837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557706806	chr19:24593837-24593838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576194126	chr19:24593845-24593846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543263093	chr19:24593861-24593862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75834032	chr19:24593870-24593871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs555261653	chr19:24593872-24593873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574457785	chr19:24593875-24593876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2864510	chr19:24593882-24593883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2864509	chr19:24593883-24593884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541855189	chr19:24593893-24593894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560612191	chr19:24593903-24593904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527828533	chr19:24593912-24593913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183076862	chr19:24593919-24593920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578243004	chr19:24593921-24593922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564477951	chr19:24593928-24593929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10048472	chr19:24593936-24593937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs71210808	chr19:24593955-24593956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531964648	chr19:24593956-24593957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs550462534	chr19:24593959-24593960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568807329	chr19:24593965-24593966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528876203	chr19:24593967-24593968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547125326	chr19:24593982-24593983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs187968896	chr19:24593994-24593995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2902773	chr19:24594017-24594018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557835439	chr19:24594025-24594026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569721387	chr19:24594027-24594028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536862771	chr19:24594034-24594035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555226945	chr19:24594040-24594041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573625837	chr19:24594043-24594044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7339565	chr19:24594044-24594045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113538430	chr19:24594045-24594046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541818179	chr19:24594049-24594050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553840880	chr19:24594054-24594055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572409672	chr19:24594081-24594082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201231452	chr19:24594086-24594087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545953839	chr19:24594114-24594115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564621533	chr19:24594125-24594126	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531927623	chr19:24594129-24594130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544060693	chr19:24594132-24594133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562367999	chr19:24594139-24594140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529656224	chr19:24594142-24594143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24593200-24594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:24593600-24593800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr19:24593600-24596400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:24593800-24594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:24593800-24594400	ZNF genes & repeats	Fetal Heart	heart
6	chr19:24594000-24594400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:24594000-24594600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:24594000-24597000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr19:24594200-24594400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr19:24594200-24594400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr19:24594200-24594400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:24594200-24594400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
15	chr19:24594200-24594400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
16	chr19:24594200-24594400	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr19:24594200-24594400	ZNF genes & repeats	Colonic Mucosa	Colon
18	chr19:24594200-24594400	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr19:24594200-24594400	ZNF genes & repeats	Left Ventricle	heart
20	chr19:24594200-24594400	ZNF genes & repeats	Osteobl	bone
21	chr19:24594200-24594600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr19:24594200-24603400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr19:24595800-24602400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr19:24596000-24596400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr19:24597600-24603400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr19:24598200-24602800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:24601200-24601400	ZNF genes & repeats	HUVEC	blood vessel
28	chr19:24601200-24601600	ZNF genes & repeats	NH-A	brain
29	chr19:24601600-24608400	Weak transcription	NH-A	brain
30	chr19:24602000-24603400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr19:24615200-24617400	Weak transcription	NH-A	brain
32	chr19:24617400-24617800	ZNF genes & repeats	NH-A	brain
33	chr19:24617800-24619000	Weak transcription	NH-A	brain

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