Variant report

Variant	esv1850156
Chromosome Location	chr19:24582985-24601680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1737 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:1737 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2902776	chr19:24582985-24582986	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527440667	chr19:24582995-24582996	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12462761	chr19:24582996-24582997	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs11672706	chr19:24582998-24582999	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77447465	chr19:24583007-24583008	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs75308086	chr19:24583011-24583012	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146970877	chr19:24583014-24583015	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141149764	chr19:24583015-24583016	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs76278461	chr19:24583016-24583017	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs146113586	chr19:24583023-24583024	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76997877	chr19:24583025-24583026	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552324183	chr19:24583032-24583033	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs74669549	chr19:24583035-24583036	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2902777	chr19:24583037-24583038	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs150853454	chr19:24583038-24583039	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145313192	chr19:24583041-24583042	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150301604	chr19:24583046-24583047	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149404529	chr19:24583048-24583049	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140762782	chr19:24583049-24583050	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145548276	chr19:24583050-24583051	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144563756	chr19:24583051-24583052	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs149614351	chr19:24583056-24583057	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148694782	chr19:24583057-24583058	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs78295751	chr19:24583060-24583061	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77169852	chr19:24583062-24583063	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78254276	chr19:24583063-24583064	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143000989	chr19:24583064-24583065	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs77976377	chr19:24583077-24583078	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs139164560	chr19:24583079-24583080	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144616945	chr19:24583087-24583088	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570588194	chr19:24583088-24583089	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368676900	chr19:24583095-24583096	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77461775	chr19:24583096-24583097	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373048623	chr19:24583099-24583100	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556469222	chr19:24583100-24583101	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568365492	chr19:24583101-24583102	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536609725	chr19:24583104-24583105	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554706486	chr19:24583105-24583106	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549466610	chr19:24583112-24583113	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs201947325	chr19:24583117-24583118	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573285379	chr19:24583119-24583120	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540402138	chr19:24583120-24583121	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559094189	chr19:24583122-24583123	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576990719	chr19:24583127-24583128	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs199620394	chr19:24583130-24583131	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200509262	chr19:24583145-24583146	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs74883157	chr19:24583147-24583148	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs78055449	chr19:24583149-24583150	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs78738562	chr19:24583150-24583151	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77662569	chr19:24583151-24583152	ZNF genes & repeats Active TSS	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24582600-24583200	Active TSS	Aorta	Aorta
2	chr19:24582800-24588600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:24583000-24588600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:24583200-24588600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:24583400-24585000	ZNF genes & repeats	Fetal Heart	heart
6	chr19:24583400-24588600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:24583800-24585800	ZNF genes & repeats	HUVEC	blood vessel
8	chr19:24584400-24588400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:24585000-24585200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:24586000-24586800	Weak transcription	HUVEC	blood vessel
11	chr19:24586400-24588200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:24586600-24587200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr19:24586600-24588200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:24586600-24588400	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr19:24586800-24587000	ZNF genes & repeats	NH-A	brain
16	chr19:24586800-24587200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:24586800-24588600	ZNF genes & repeats	Liver	Liver
18	chr19:24586800-24588600	ZNF genes & repeats	HUVEC	blood vessel
19	chr19:24587600-24588400	Active TSS	Aorta	Aorta
20	chr19:24587600-24588400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:24587800-24588200	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr19:24587800-24588400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr19:24588200-24588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:24588600-24589000	Weak transcription	HUVEC	blood vessel
25	chr19:24593200-24594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:24593600-24593800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr19:24593600-24596400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:24593800-24594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:24593800-24594400	ZNF genes & repeats	Fetal Heart	heart
30	chr19:24594000-24594400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:24594000-24594600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr19:24594000-24597000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr19:24594200-24594400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr19:24594200-24594400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr19:24594200-24594400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:24594200-24594400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr19:24594200-24594400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
40	chr19:24594200-24594400	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr19:24594200-24594400	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr19:24594200-24594400	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr19:24594200-24594400	ZNF genes & repeats	Left Ventricle	heart
44	chr19:24594200-24594400	ZNF genes & repeats	Osteobl	bone
45	chr19:24594200-24594600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr19:24594200-24603400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr19:24595800-24602400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr19:24596000-24596400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr19:24597600-24603400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr19:24598200-24602800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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