Variant report

Variant	esv3388688
Chromosome Location	chr19:24575528-24606532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2532 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:2532 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113729430	chr19:24575580-24575581	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs145985251	chr19:24575582-24575583	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147748264	chr19:24575586-24575587	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575160769	chr19:24575587-24575588	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371474145	chr19:24575591-24575592	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62135723	chr19:24575592-24575593	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs199694222	chr19:24575593-24575594	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113492440	chr19:24575598-24575599	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201651757	chr19:24575602-24575603	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199827676	chr19:24575607-24575608	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200792719	chr19:24575610-24575611	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113395320	chr19:24575622-24575623	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369074819	chr19:24575634-24575635	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560788242	chr19:24575637-24575638	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572917415	chr19:24575646-24575647	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373885202	chr19:24575671-24575672	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539992462	chr19:24575675-24575676	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183664885	chr19:24575682-24575683	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143723515	chr19:24575683-24575684	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs142637404	chr19:24575697-24575698	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532269913	chr19:24575699-24575700	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189056698	chr19:24575709-24575710	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563683528	chr19:24575710-24575711	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112738505	chr19:24575720-24575721	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs57038943	chr19:24575725-24575726	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201576846	chr19:24575737-24575738	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2864549	chr19:24575759-24575760	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567604470	chr19:24575769-24575770	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535131245	chr19:24575770-24575771	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547203947	chr19:24575775-24575776	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571918403	chr19:24575778-24575779	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs56793669	chr19:24575814-24575815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557406820	chr19:24575817-24575818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575912277	chr19:24575824-24575825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201443000	chr19:24575842-24575843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535844838	chr19:24575843-24575844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554552587	chr19:24575856-24575857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572564249	chr19:24575861-24575862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374795308	chr19:24575878-24575879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369455379	chr19:24575886-24575887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372828414	chr19:24575887-24575888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539980353	chr19:24575898-24575899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200881102	chr19:24575912-24575913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564715233	chr19:24575920-24575921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182400365	chr19:24575932-24575933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544016893	chr19:24575937-24575938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562611577	chr19:24575963-24575964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs530002797	chr19:24575973-24575974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549063529	chr19:24575977-24575978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76603348	chr19:24576014-24576015	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24507800-24577200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:24522000-24576600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:24525400-24577200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr19:24574400-24576200	ZNF genes & repeats	Dnd41	blood
5	chr19:24574600-24575800	Active TSS	Aorta	Aorta
6	chr19:24577400-24577600	ZNF genes & repeats	Aorta	Aorta
7	chr19:24577600-24578000	Weak transcription	Aorta	Aorta
8	chr19:24582600-24583200	Active TSS	Aorta	Aorta
9	chr19:24582800-24588600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr19:24583000-24588600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr19:24583200-24588600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr19:24583400-24585000	ZNF genes & repeats	Fetal Heart	heart
13	chr19:24583400-24588600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:24583800-24585800	ZNF genes & repeats	HUVEC	blood vessel
15	chr19:24584400-24588400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:24585000-24585200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:24586000-24586800	Weak transcription	HUVEC	blood vessel
18	chr19:24586400-24588200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:24586600-24587200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr19:24586600-24588200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:24586600-24588400	ZNF genes & repeats	Psoas Muscle	Psoas
22	chr19:24586800-24587000	ZNF genes & repeats	NH-A	brain
23	chr19:24586800-24587200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:24586800-24588600	ZNF genes & repeats	Liver	Liver
25	chr19:24586800-24588600	ZNF genes & repeats	HUVEC	blood vessel
26	chr19:24587600-24588400	Active TSS	Aorta	Aorta
27	chr19:24587600-24588400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr19:24587800-24588200	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr19:24587800-24588400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
30	chr19:24588200-24588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:24588600-24589000	Weak transcription	HUVEC	blood vessel
32	chr19:24593200-24594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:24593600-24593800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr19:24593600-24596400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:24593800-24594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr19:24593800-24594400	ZNF genes & repeats	Fetal Heart	heart
37	chr19:24594000-24594400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:24594000-24594600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:24594000-24597000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr19:24594200-24594400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr19:24594200-24594400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr19:24594200-24594400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:24594200-24594400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
46	chr19:24594200-24594400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
47	chr19:24594200-24594400	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr19:24594200-24594400	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr19:24594200-24594400	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr19:24594200-24594400	ZNF genes & repeats	Left Ventricle	heart

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