Variant report

Variant	nsv1066250
Chromosome Location	chr19:24352103-24596738
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-chr19:24456836..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456855..24458356,4	K562	blood:

Extended variants
information (count: 14375 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:14375 , 50 per page) page: 1 2 3 4 5 6 7 ... 288

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568651262	chr19:24352122-24352123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542635796	chr19:24352127-24352128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560705416	chr19:24352151-24352152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528054358	chr19:24352214-24352215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181362587	chr19:24352223-24352224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537217150	chr19:24352224-24352225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557043090	chr19:24352261-24352262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571560004	chr19:24352289-24352290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532575195	chr19:24352312-24352313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371356874	chr19:24352331-24352332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550755327	chr19:24352345-24352346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140505468	chr19:24352415-24352416	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150448211	chr19:24352417-24352418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554984616	chr19:24352432-24352433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566769414	chr19:24352437-24352438	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs8112938	chr19:24352456-24352457	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552999544	chr19:24352464-24352465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114884033	chr19:24352479-24352480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185640470	chr19:24352493-24352494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545269761	chr19:24352494-24352495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376664325	chr19:24352529-24352530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557171330	chr19:24352538-24352539	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575331121	chr19:24352545-24352546	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542372357	chr19:24352546-24352547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190796006	chr19:24352551-24352552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115708333	chr19:24352555-24352556	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539799517	chr19:24352565-24352566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116900441	chr19:24352582-24352583	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183019429	chr19:24352585-24352586	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10424642	chr19:24352586-24352587	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145324132	chr19:24352604-24352605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530282118	chr19:24352621-24352622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548416731	chr19:24352642-24352643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550004708	chr19:24352651-24352652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373879977	chr19:24352710-24352711	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558982596	chr19:24352717-24352718	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188465205	chr19:24352722-24352723	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35591727	chr19:24352731-24352732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571369879	chr19:24352750-24352751	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143387508	chr19:24352806-24352807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191987806	chr19:24352843-24352844	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183909198	chr19:24352884-24352885	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554375578	chr19:24352920-24352921	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572590903	chr19:24352928-24352929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539886625	chr19:24352934-24352935	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564520421	chr19:24352942-24352943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577154819	chr19:24352954-24352955	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538747778	chr19:24352962-24352963	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73029286	chr19:24352971-24352972	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371291200	chr19:24353010-24353011	Weak transcription ZNF genes & repeats Strong 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:379 , 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	chr19:24344400-24354800	Weak transcription	Dnd41	blood
3	chr19:24346000-24357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:24346400-24357200	Weak transcription	Left Ventricle	heart
5	chr19:24347800-24357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:24349400-24352400	Weak transcription	Ovary	ovary
7	chr19:24350000-24354000	Weak transcription	HSMMtube	muscle
8	chr19:24350200-24353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:24351400-24355200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr19:24352200-24355000	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:24352400-24354000	Strong transcription	Ovary	ovary
12	chr19:24352800-24355800	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr19:24353600-24354800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:24353800-24354200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:24354000-24355000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
16	chr19:24354000-24356800	Weak transcription	Ovary	ovary
17	chr19:24354200-24356600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:24356600-24356800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:24356800-24357400	ZNF genes & repeats	Ovary	ovary
20	chr19:24357400-24360200	Weak transcription	Ovary	ovary
21	chr19:24360200-24361000	ZNF genes & repeats	Ovary	ovary
22	chr19:24360400-24361400	ZNF genes & repeats	Fetal Brain Female	brain
23	chr19:24360400-24361600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:24360400-24362200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:24360400-24363600	ZNF genes & repeats	Liver	Liver
26	chr19:24360600-24361800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:24360600-24363400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr19:24360600-24364400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:24361400-24362600	ZNF genes & repeats	Fetal Lung	lung
30	chr19:24362400-24364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr19:24363000-24364000	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr19:24364000-24365600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr19:24365600-24365800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr19:24379600-24380600	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr19:24385400-24389600	ZNF genes & repeats	Liver	Liver
36	chr19:24387200-24389400	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr19:24387400-24389600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr19:24390200-24394800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:24390600-24391800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:24390800-24391200	ZNF genes & repeats	HUVEC	blood vessel
41	chr19:24390800-24393800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr19:24390800-24398400	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr19:24390800-24400400	ZNF genes & repeats	Liver	Liver
44	chr19:24393200-24394000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr19:24394200-24401200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:24397400-24403000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr19:24397600-24397800	Enhancers	Rectal Smooth Muscle	rectum
48	chr19:24397800-24400200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr19:24398000-24403000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr19:24400000-24400400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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