Variant report

Variant	nsv458531
Chromosome Location	chr19:24354312-24490299
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: 5744 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:5744 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17620029	chr19:24354312-24354313	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529293901	chr19:24354320-24354321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540987441	chr19:24354349-24354350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372608322	chr19:24354366-24354367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149310175	chr19:24354391-24354392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191716189	chr19:24354395-24354396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs59163486	chr19:24354439-24354440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531375283	chr19:24354440-24354441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549850857	chr19:24354478-24354479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568022933	chr19:24354481-24354482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184043432	chr19:24354483-24354484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187358205	chr19:24354549-24354550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189900571	chr19:24354553-24354554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561417655	chr19:24354592-24354593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539540083	chr19:24354629-24354630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540119788	chr19:24354631-24354632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs17770006	chr19:24354633-24354634	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73029290	chr19:24354637-24354638	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537205026	chr19:24354647-24354648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139422177	chr19:24354658-24354659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73029291	chr19:24354668-24354669	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541073479	chr19:24354780-24354781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559301682	chr19:24354782-24354783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375434293	chr19:24354812-24354813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs182223002	chr19:24354818-24354819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575433794	chr19:24354826-24354827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544435559	chr19:24354857-24354858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs143548982	chr19:24354895-24354896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531541840	chr19:24354914-24354915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs73524201	chr19:24354915-24354916	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550968621	chr19:24354930-24354931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186516022	chr19:24354933-24354934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74485123	chr19:24354934-24354935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117611226	chr19:24354942-24354943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539414632	chr19:24354943-24354944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs540151162	chr19:24354944-24354945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552107496	chr19:24354956-24354957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547468410	chr19:24354960-24354961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374110391	chr19:24354985-24354986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566191231	chr19:24355054-24355055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs537691710	chr19:24355072-24355073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112568526	chr19:24355073-24355074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545903776	chr19:24355079-24355080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555678920	chr19:24355139-24355140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148515144	chr19:24355171-24355172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs368019091	chr19:24355187-24355188	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534778965	chr19:24355190-24355191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553020998	chr19:24355204-24355205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577616161	chr19:24355209-24355210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191754629	chr19:24355217-24355218	Weak transcription ZNF genes & repeats	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:135 , 50 per page) page: 1 2 3

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	chr19:24351400-24355200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:24352200-24355000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:24352800-24355800	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr19:24353600-24354800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:24354000-24355000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
11	chr19:24354000-24356800	Weak transcription	Ovary	ovary
12	chr19:24354200-24356600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:24356600-24356800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:24356800-24357400	ZNF genes & repeats	Ovary	ovary
15	chr19:24357400-24360200	Weak transcription	Ovary	ovary
16	chr19:24360200-24361000	ZNF genes & repeats	Ovary	ovary
17	chr19:24360400-24361400	ZNF genes & repeats	Fetal Brain Female	brain
18	chr19:24360400-24361600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:24360400-24362200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:24360400-24363600	ZNF genes & repeats	Liver	Liver
21	chr19:24360600-24361800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:24360600-24363400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:24360600-24364400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:24361400-24362600	ZNF genes & repeats	Fetal Lung	lung
25	chr19:24362400-24364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr19:24363000-24364000	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr19:24364000-24365600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr19:24365600-24365800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr19:24379600-24380600	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr19:24385400-24389600	ZNF genes & repeats	Liver	Liver
31	chr19:24387200-24389400	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr19:24387400-24389600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr19:24390200-24394800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr19:24390600-24391800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:24390800-24391200	ZNF genes & repeats	HUVEC	blood vessel
36	chr19:24390800-24393800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr19:24390800-24398400	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr19:24390800-24400400	ZNF genes & repeats	Liver	Liver
39	chr19:24393200-24394000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr19:24394200-24401200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:24397400-24403000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr19:24397600-24397800	Enhancers	Rectal Smooth Muscle	rectum
43	chr19:24397800-24400200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:24398000-24403000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr19:24400000-24400400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr19:24400000-24400400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr19:24400000-24400400	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr19:24400000-24400600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr19:24400000-24400600	ZNF genes & repeats	Dnd41	blood
50	chr19:24400000-24405000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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