Variant report

Variant	nsv1060663
Chromosome Location	chr19:24451217-24596738
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-chr19:24456855..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456836..24458356,4	K562	blood:

Extended variants
information (count: 10543 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:10543 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139603463	chr19:24451229-24451230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs8189774	chr19:24451244-24451245	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144337125	chr19:24451249-24451250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs117198400	chr19:24451264-24451265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533307659	chr19:24451273-24451274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572247940	chr19:24451274-24451275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552591778	chr19:24451281-24451282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534951783	chr19:24451286-24451287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183240731	chr19:24451288-24451289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372971963	chr19:24451327-24451328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187530714	chr19:24451335-24451336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556388948	chr19:24451345-24451346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111896599	chr19:24451371-24451372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535667593	chr19:24451377-24451378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114390758	chr19:24451386-24451387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572634149	chr19:24451419-24451420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116843266	chr19:24451434-24451435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs8189865	chr19:24451447-24451448	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543073007	chr19:24451451-24451452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192108016	chr19:24451469-24451470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529034549	chr19:24451478-24451479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10416026	chr19:24451518-24451519	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs77150080	chr19:24451524-24451525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559536558	chr19:24451568-24451569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533233830	chr19:24451595-24451596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538816762	chr19:24455812-24455813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556910746	chr19:24455827-24455828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368543608	chr19:24455853-24455854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575473431	chr19:24455869-24455870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs536171650	chr19:24455873-24455874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372495874	chr19:24455885-24455886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573700626	chr19:24455921-24455922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs8187343	chr19:24455941-24455942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568414377	chr19:24455945-24455946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62114082	chr19:24455949-24455950	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1830180	chr19:24455963-24455964	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577303433	chr19:24455970-24455971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs55972605	chr19:24455979-24455980	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563761586	chr19:24455995-24455996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531210936	chr19:24456001-24456002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546196473	chr19:24456002-24456003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549417105	chr19:24456004-24456005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140084942	chr19:24456017-24456018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs528084849	chr19:24456031-24456032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546666696	chr19:24456061-24456062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571343959	chr19:24456073-24456074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs538390426	chr19:24456083-24456084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552820328	chr19:24456094-24456095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550716869	chr19:24456125-24456126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114599222	chr19:24456130-24456131	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:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24450200-24451400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:24451400-24451600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr19:24455800-24462600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:24457000-24458600	ZNF genes & repeats	Liver	Liver
5	chr19:24457600-24458600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:24468000-24473400	ZNF genes & repeats	Liver	Liver
7	chr19:24468400-24496800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:24468600-24477400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:24469200-24504400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:24472000-24475000	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:24472800-24473200	Active TSS	Aorta	Aorta
12	chr19:24473200-24474200	Weak transcription	Aorta	Aorta
13	chr19:24474000-24474800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr19:24474200-24474400	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr19:24474200-24474400	ZNF genes & repeats	Dnd41	blood
16	chr19:24474200-24474400	ZNF genes & repeats	Osteobl	bone
17	chr19:24474200-24474600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr19:24474200-24474600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:24474200-24474800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr19:24474200-24474800	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr19:24474200-24474800	Active TSS	Aorta	Aorta
22	chr19:24474200-24474800	ZNF genes & repeats	NH-A	brain
23	chr19:24474200-24475000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr19:24474400-24474800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:24474600-24474800	ZNF genes & repeats	HepG2	liver
26	chr19:24474600-24474800	ZNF genes & repeats	HUVEC	blood vessel
27	chr19:24474600-24474800	ZNF genes & repeats	K562	blood
28	chr19:24475000-24475600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:24475600-24504400	ZNF genes & repeats	Liver	Liver
30	chr19:24478600-24484600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:24480000-24493400	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr19:24480800-24481400	Active TSS	Aorta	Aorta
33	chr19:24481600-24494000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr19:24484400-24485000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:24484800-24486000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:24486400-24487200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr19:24486400-24490800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr19:24491800-24492400	Active TSS	Aorta	Aorta
39	chr19:24495600-24497600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr19:24499000-24502200	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr19:24499200-24502000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr19:24500800-24501200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:24503800-24512000	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr19:24505400-24505800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr19:24507800-24577200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:24508000-24573400	ZNF genes & repeats	Liver	Liver
47	chr19:24508800-24569000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:24509200-24570800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr19:24509400-24510200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr19:24513000-24571800	ZNF genes & repeats	Adipose Nuclei	Adipose

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