Variant report

Variant	esv3337800
Chromosome Location	chr19:24474629-24603549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10586 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:10586 , 50 per page) page: 1 2 3 4 5 6 7 ... 212

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531443295	chr19:24474632-24474633	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201551852	chr19:24474665-24474666	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145463357	chr19:24474699-24474700	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78697607	chr19:24474700-24474701	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146054432	chr19:24474704-24474705	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543582764	chr19:24474708-24474709	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561861288	chr19:24474718-24474719	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111227076	chr19:24474724-24474725	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75233289	chr19:24474731-24474732	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148880473	chr19:24474742-24474743	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs193170056	chr19:24474793-24474794	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73530852	chr19:24474807-24474808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185057348	chr19:24474815-24474816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571277805	chr19:24474853-24474854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112559590	chr19:24474868-24474869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2162939	chr19:24474935-24474936	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570572577	chr19:24474946-24474947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs75626517	chr19:24474973-24474974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556289163	chr19:24474994-24474995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568620756	chr19:24475003-24475004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535704782	chr19:24475022-24475023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs574080936	chr19:24475026-24475027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554411703	chr19:24475042-24475043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553200539	chr19:24475051-24475052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs572673856	chr19:24475056-24475057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146510913	chr19:24475060-24475061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536391655	chr19:24475061-24475062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372311854	chr19:24475069-24475070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73017210	chr19:24475086-24475087	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368448745	chr19:24475121-24475122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543521842	chr19:24475122-24475123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561800895	chr19:24475127-24475128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573743894	chr19:24475131-24475132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540887066	chr19:24475132-24475133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371929226	chr19:24475134-24475135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559550998	chr19:24475196-24475197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs190751148	chr19:24475210-24475211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs36066085	chr19:24475220-24475221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs138874976	chr19:24475288-24475289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545302337	chr19:24475291-24475292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574416689	chr19:24475302-24475303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531627363	chr19:24475306-24475307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111452523	chr19:24475323-24475324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs143237166	chr19:24475377-24475378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147518329	chr19:24475379-24475380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182033129	chr19:24475385-24475386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183767429	chr19:24475398-24475399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540133869	chr19:24475408-24475409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558515910	chr19:24475427-24475428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375465424	chr19:24475448-24475449	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:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24468400-24496800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:24468600-24477400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:24469200-24504400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:24472000-24475000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:24474000-24474800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr19:24474200-24474800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr19:24474200-24474800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr19:24474200-24474800	Active TSS	Aorta	Aorta
9	chr19:24474200-24474800	ZNF genes & repeats	NH-A	brain
10	chr19:24474200-24475000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr19:24474400-24474800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:24474600-24474800	ZNF genes & repeats	HepG2	liver
13	chr19:24474600-24474800	ZNF genes & repeats	HUVEC	blood vessel
14	chr19:24474600-24474800	ZNF genes & repeats	K562	blood
15	chr19:24475000-24475600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:24475600-24504400	ZNF genes & repeats	Liver	Liver
17	chr19:24478600-24484600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:24480000-24493400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:24480800-24481400	Active TSS	Aorta	Aorta
20	chr19:24481600-24494000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr19:24484400-24485000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:24484800-24486000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:24486400-24487200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr19:24486400-24490800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:24491800-24492400	Active TSS	Aorta	Aorta
26	chr19:24495600-24497600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr19:24499000-24502200	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr19:24499200-24502000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:24500800-24501200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:24503800-24512000	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr19:24505400-24505800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr19:24507800-24577200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:24508000-24573400	ZNF genes & repeats	Liver	Liver
34	chr19:24508800-24569000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:24509200-24570800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr19:24509400-24510200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr19:24513000-24571800	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr19:24513400-24527000	ZNF genes & repeats	Dnd41	blood
39	chr19:24513600-24530800	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr19:24513800-24518200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr19:24514400-24519400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr19:24515400-24516200	Active TSS	Right Atrium	heart
43	chr19:24515400-24517200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:24515400-24519400	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr19:24517400-24519600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr19:24517800-24520200	Active TSS	Aorta	Aorta
47	chr19:24520200-24522200	Weak transcription	Aorta	Aorta
48	chr19:24521200-24522200	Active TSS	Fetal Heart	heart
49	chr19:24521200-24526600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr19:24521400-24521600	ZNF genes & repeats	Fetal Lung	lung

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