Variant report

Variant	esv1804227
Chromosome Location	chr19:24552161-24585183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2754 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:2754 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7339619	chr19:24552161-24552162	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537851447	chr19:24552184-24552185	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555939549	chr19:24552215-24552216	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574515984	chr19:24552248-24552249	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541642979	chr19:24552280-24552281	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560324500	chr19:24552282-24552283	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111868746	chr19:24552294-24552295	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78461798	chr19:24552341-24552342	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79242102	chr19:24552344-24552345	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571931128	chr19:24552346-24552347	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77115268	chr19:24552347-24552348	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74380670	chr19:24552350-24552351	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545656014	chr19:24552354-24552355	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367754136	chr19:24552369-24552370	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532324120	chr19:24552379-24552380	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370368044	chr19:24552403-24552404	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562834729	chr19:24552404-24552405	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530248940	chr19:24552410-24552411	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1580164	chr19:24552413-24552414	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112636469	chr19:24552420-24552421	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546257739	chr19:24552430-24552431	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567029561	chr19:24552433-24552434	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527904271	chr19:24552434-24552435	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375291503	chr19:24552446-24552447	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199517946	chr19:24552479-24552480	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552862803	chr19:24552485-24552486	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571166056	chr19:24552487-24552488	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77904090	chr19:24552511-24552512	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368212828	chr19:24552512-24552513	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9676824	chr19:24552516-24552517	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556157118	chr19:24552522-24552523	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568040131	chr19:24552525-24552526	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1902453	chr19:24552529-24552530	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113583727	chr19:24552534-24552535	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77766970	chr19:24552543-24552544	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1580163	chr19:24552553-24552554	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553600539	chr19:24552561-24552562	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77720329	chr19:24552564-24552565	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77175208	chr19:24552565-24552566	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80122833	chr19:24552574-24552575	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74945831	chr19:24552575-24552576	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571865386	chr19:24552579-24552580	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2085372	chr19:24552606-24552607	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1817225	chr19:24552614-24552615	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565159722	chr19:24552634-24552635	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557624862	chr19:24552635-24552636	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138908119	chr19:24552647-24552648	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8187359	chr19:24552654-24552655	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544267004	chr19:24552666-24552667	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572330752	chr19:24552684-24552685	ZNF genes & repeats Active TSS Weak transcription	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:54 , 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	chr19:24508000-24573400	ZNF genes & repeats	Liver	Liver
3	chr19:24508800-24569000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:24509200-24570800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:24513000-24571800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:24522000-24576600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr19:24525400-24577200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr19:24533400-24556800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr19:24548400-24559800	ZNF genes & repeats	Psoas Muscle	Psoas
10	chr19:24551200-24553200	Weak transcription	Right Atrium	heart
11	chr19:24551400-24556600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:24552000-24553200	Active TSS	Aorta	Aorta
13	chr19:24553000-24553600	ZNF genes & repeats	Fetal Heart	heart
14	chr19:24553200-24553600	Active TSS	Right Atrium	heart
15	chr19:24553600-24554600	Active TSS	Fetal Heart	heart
16	chr19:24554800-24555200	ZNF genes & repeats	Dnd41	blood
17	chr19:24555400-24555600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr19:24555600-24563600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr19:24556000-24556600	Active TSS	Right Atrium	heart
20	chr19:24556600-24558200	Weak transcription	Right Atrium	heart
21	chr19:24556600-24565400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:24557000-24558200	Active TSS	Fetal Heart	heart
23	chr19:24558000-24560600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr19:24558200-24558600	Active TSS	Right Atrium	heart
25	chr19:24558200-24559400	ZNF genes & repeats	Fetal Heart	heart
26	chr19:24558600-24565600	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr19:24559400-24560000	Active TSS	Fetal Heart	heart
28	chr19:24560600-24565000	ZNF genes & repeats	Dnd41	blood
29	chr19:24562000-24562800	ZNF genes & repeats	Fetal Brain Male	brain
30	chr19:24563000-24568800	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr19:24563000-24569000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr19:24563600-24564000	Active TSS	Right Atrium	heart
33	chr19:24564000-24565800	Weak transcription	Right Atrium	heart
34	chr19:24565200-24568200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr19:24565600-24565800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:24565600-24566600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
37	chr19:24565800-24566800	Active TSS	Right Atrium	heart
38	chr19:24572400-24573400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:24572600-24573200	Active TSS	Aorta	Aorta
40	chr19:24573000-24573400	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr19:24573200-24574600	Weak transcription	Aorta	Aorta
42	chr19:24574400-24576200	ZNF genes & repeats	Dnd41	blood
43	chr19:24574600-24575800	Active TSS	Aorta	Aorta
44	chr19:24577400-24577600	ZNF genes & repeats	Aorta	Aorta
45	chr19:24577600-24578000	Weak transcription	Aorta	Aorta
46	chr19:24582600-24583200	Active TSS	Aorta	Aorta
47	chr19:24582800-24588600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr19:24583000-24588600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr19:24583200-24588600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr19:24583400-24585000	ZNF genes & repeats	Fetal Heart	heart

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