Variant report

Variant	nsv510761
Chromosome Location	chr19:24443581-24524803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121483249..121485033-chr19:24456836..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456855..24458356,4	K562	blood:

Extended variants
information (count: 4846 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:4846 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370227929	chr19:24443592-24443593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375056592	chr19:24443603-24443604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs532491264	chr19:24443615-24443616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551089386	chr19:24443632-24443633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs12980637	chr19:24443633-24443634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs562919544	chr19:24443634-24443635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530339869	chr19:24443635-24443636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548860245	chr19:24443659-24443660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567173770	chr19:24443669-24443670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534544341	chr19:24443698-24443699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552191262	chr19:24443713-24443714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570460349	chr19:24443748-24443749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs80306816	chr19:24443751-24443752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556243431	chr19:24443760-24443761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs574510499	chr19:24443769-24443770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1896752	chr19:24443790-24443791	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372763529	chr19:24443825-24443826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572008588	chr19:24443846-24443847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147886214	chr19:24443854-24443855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141637824	chr19:24443866-24443867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577197150	chr19:24443867-24443868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78930675	chr19:24443879-24443880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189121422	chr19:24443881-24443882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1918156	chr19:24443883-24443884	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs527635464	chr19:24443945-24443946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192993538	chr19:24444005-24444006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560706919	chr19:24444007-24444008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76533745	chr19:24444017-24444018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184158532	chr19:24444024-24444025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552859670	chr19:24444026-24444027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570322303	chr19:24444044-24444045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs8111185	chr19:24444087-24444088	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574878735	chr19:24444108-24444109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567821467	chr19:24444109-24444110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374057773	chr19:24444114-24444115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535221929	chr19:24444137-24444138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs34855389	chr19:24444157-24444158	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539327699	chr19:24444167-24444168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs62114077	chr19:24444214-24444215	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577130767	chr19:24444239-24444240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546262013	chr19:24444302-24444303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544597198	chr19:24444351-24444352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs577676445	chr19:24444382-24444383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556329621	chr19:24444411-24444412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138248088	chr19:24444414-24444415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542376639	chr19:24444430-24444431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560644356	chr19:24444436-24444437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527908298	chr19:24444471-24444472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs546033654	chr19:24444511-24444512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs1725901	chr19:24444522-24444523	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24440600-24444800	ZNF genes & repeats	Liver	Liver
2	chr19:24442400-24445000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:24443000-24446200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:24444000-24444800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:24444800-24446400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:24445200-24445400	ZNF genes & repeats	Brain Substantia Nigra	brain
7	chr19:24445400-24445800	Active TSS	Brain Substantia Nigra	brain
8	chr19:24450200-24451400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:24451400-24451600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr19:24455800-24462600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:24457000-24458600	ZNF genes & repeats	Liver	Liver
12	chr19:24457600-24458600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr19:24468000-24473400	ZNF genes & repeats	Liver	Liver
14	chr19:24468400-24496800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:24468600-24477400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr19:24469200-24504400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:24472000-24475000	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr19:24472800-24473200	Active TSS	Aorta	Aorta
19	chr19:24473200-24474200	Weak transcription	Aorta	Aorta
20	chr19:24474000-24474800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr19:24474200-24474400	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr19:24474200-24474400	ZNF genes & repeats	Dnd41	blood
23	chr19:24474200-24474400	ZNF genes & repeats	Osteobl	bone
24	chr19:24474200-24474600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr19:24474200-24474600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:24474200-24474800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr19:24474200-24474800	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr19:24474200-24474800	Active TSS	Aorta	Aorta
29	chr19:24474200-24474800	ZNF genes & repeats	NH-A	brain
30	chr19:24474200-24475000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr19:24474400-24474800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:24474600-24474800	ZNF genes & repeats	HepG2	liver
33	chr19:24474600-24474800	ZNF genes & repeats	HUVEC	blood vessel
34	chr19:24474600-24474800	ZNF genes & repeats	K562	blood
35	chr19:24475000-24475600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:24475600-24504400	ZNF genes & repeats	Liver	Liver
37	chr19:24478600-24484600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:24480000-24493400	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr19:24480800-24481400	Active TSS	Aorta	Aorta
40	chr19:24481600-24494000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr19:24484400-24485000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:24484800-24486000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr19:24486400-24487200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr19:24486400-24490800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr19:24491800-24492400	Active TSS	Aorta	Aorta
46	chr19:24495600-24497600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr19:24499000-24502200	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr19:24499200-24502000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr19:24500800-24501200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:24503800-24512000	ZNF genes & repeats	Adipose Nuclei	Adipose

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