Variant report

Variant	nsv9697
Chromosome Location	chr19:24354799-24355249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375434293	chr19:24354812-24354813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182223002	chr19:24354818-24354819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575433794	chr19:24354826-24354827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544435559	chr19:24354857-24354858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143548982	chr19:24354895-24354896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531541840	chr19:24354914-24354915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73524201	chr19:24354915-24354916	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550968621	chr19:24354930-24354931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186516022	chr19:24354933-24354934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74485123	chr19:24354934-24354935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs117611226	chr19:24354942-24354943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539414632	chr19:24354943-24354944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540151162	chr19:24354944-24354945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552107496	chr19:24354956-24354957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547468410	chr19:24354960-24354961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs374110391	chr19:24354985-24354986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566191231	chr19:24355054-24355055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537691710	chr19:24355072-24355073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112568526	chr19:24355073-24355074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545903776	chr19:24355079-24355080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555678920	chr19:24355139-24355140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs148515144	chr19:24355171-24355172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368019091	chr19:24355187-24355188	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534778965	chr19:24355190-24355191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553020998	chr19:24355204-24355205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577616161	chr19:24355209-24355210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs191754629	chr19:24355217-24355218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544961474	chr19:24355234-24355235	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:12 , 50 per page) page: 1

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

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