Variant report

Variant	esv3418563
Chromosome Location	chr19:39240425-39240774
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	chr19:39236154..39238526-chr19:39239272..39240879,2	K562	blood:
2	chr19:39225344..39229227-chr19:39238595..39241730,3	K562	blood:

Variant related genes	Relation type
ENSG00000182472	chromatin interactions
ENSG00000267892	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555142012	chr19:39240446-39240447	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576599210	chr19:39240447-39240448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs142560579	chr19:39240462-39240463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376232627	chr19:39240528-39240529	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576944215	chr19:39240529-39240530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540991359	chr19:39240554-39240555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34090445	chr19:39240561-39240562	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527557981	chr19:39240565-39240566	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549051547	chr19:39240625-39240626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561247760	chr19:39240650-39240651	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562122129	chr19:39240657-39240658	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201286908	chr19:39240658-39240659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs58481662	chr19:39240665-39240666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs180994818	chr19:39240681-39240682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145762233	chr19:39240720-39240721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565587309	chr19:39240721-39240722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39235200-39244400	Weak transcription	HepG2	liver
2	chr19:39236000-39240800	Weak transcription	K562	blood
3	chr19:39236600-39245600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:39239200-39240800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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