Variant report

Variant	nsv1063458
Chromosome Location	chr19:24357581-24596738
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: 14070 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:14070 , 50 per page) page: 1 2 3 4 5 6 7 ... 282

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4986345	chr19:24357686-24357687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186546634	chr19:24357718-24357719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533592138	chr19:24357770-24357771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558506934	chr19:24357771-24357772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544592511	chr19:24357774-24357775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564740068	chr19:24357778-24357779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544905678	chr19:24357787-24357788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62115688	chr19:24357800-24357801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202210199	chr19:24357801-24357802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76841130	chr19:24357802-24357803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116658501	chr19:24357819-24357820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575090927	chr19:24357830-24357831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542403373	chr19:24357839-24357840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565270120	chr19:24357884-24357885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560614797	chr19:24357894-24357895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527763786	chr19:24357895-24357896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370873765	chr19:24357935-24357936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546253795	chr19:24357938-24357939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373064732	chr19:24357942-24357943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564520249	chr19:24357943-24357944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533593779	chr19:24357970-24357971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531577180	chr19:24357974-24357975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550852490	chr19:24357975-24357976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201050036	chr19:24357990-24357991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61542748	chr19:24357991-24357992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201681460	chr19:24358001-24358002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374532525	chr19:24358019-24358020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547980834	chr19:24358022-24358023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566260217	chr19:24358030-24358031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190936326	chr19:24358033-24358034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139249097	chr19:24358043-24358044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560329420	chr19:24358052-24358053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528977227	chr19:24358080-24358081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4986346	chr19:24358090-24358091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs62115689	chr19:24358093-24358094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536082540	chr19:24358095-24358096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183129159	chr19:24358097-24358098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10423280	chr19:24358130-24358131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537815253	chr19:24358182-24358183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144260535	chr19:24358183-24358184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576392025	chr19:24358209-24358210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551285197	chr19:24358232-24358233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552846766	chr19:24358238-24358239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543441722	chr19:24358240-24358241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73029300	chr19:24358241-24358242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372969876	chr19:24358249-24358250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529917900	chr19:24358259-24358260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548017975	chr19:24358267-24358268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559933560	chr19:24358268-24358269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527455714	chr19:24358271-24358272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Colorectal cancer	20459617	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
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24337000-24359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:24357400-24360200	Weak transcription	Ovary	ovary
3	chr19:24360200-24361000	ZNF genes & repeats	Ovary	ovary
4	chr19:24360400-24361400	ZNF genes & repeats	Fetal Brain Female	brain
5	chr19:24360400-24361600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:24360400-24362200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:24360400-24363600	ZNF genes & repeats	Liver	Liver
8	chr19:24360600-24361800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:24360600-24363400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:24360600-24364400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:24361400-24362600	ZNF genes & repeats	Fetal Lung	lung
12	chr19:24362400-24364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:24363000-24364000	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:24364000-24365600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr19:24365600-24365800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
16	chr19:24379600-24380600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:24385400-24389600	ZNF genes & repeats	Liver	Liver
18	chr19:24387200-24389400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:24387400-24389600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:24390200-24394800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:24390600-24391800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:24390800-24391200	ZNF genes & repeats	HUVEC	blood vessel
23	chr19:24390800-24393800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr19:24390800-24398400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:24390800-24400400	ZNF genes & repeats	Liver	Liver
26	chr19:24393200-24394000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr19:24394200-24401200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:24397400-24403000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:24397600-24397800	Enhancers	Rectal Smooth Muscle	rectum
30	chr19:24397800-24400200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:24398000-24403000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr19:24400000-24400400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr19:24400000-24400400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr19:24400000-24400400	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr19:24400000-24400600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr19:24400000-24400600	ZNF genes & repeats	Dnd41	blood
37	chr19:24400000-24405000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:24400000-24410400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr19:24400200-24400400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
40	chr19:24400200-24400400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr19:24400200-24400400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:24400200-24400400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr19:24400200-24400400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:24400200-24400400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr19:24400200-24400400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
46	chr19:24400200-24400400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr19:24400200-24400400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
48	chr19:24400200-24400400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
49	chr19:24400200-24400400	ZNF genes & repeats	GM12878-XiMat	blood
50	chr19:24400200-24400400	ZNF genes & repeats	Hela-S3	cervix

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