Variant report

Variant	esv3385447
Chromosome Location	chr19:39239601-39239989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39239642-39239655	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:39239684-39239941	HepG2	liver:	n/a	n/a
3	ZNF384	chr19:39239641-39239814	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39225344..39229227-chr19:39238595..39241730,3	K562	blood:
2	chr19:39236154..39238526-chr19:39239272..39240879,2	K562	blood:
3	chr19:39236238..39239622-chr19:39320803..39323226,4	MCF-7	breast:

Variant related genes	Relation type
CAPN12	TF binding region
ENSG00000182472	chromatin interactions
ENSG00000104823	chromatin interactions
ENSG00000267892	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111540574	chr19:39239603-39239604	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554475538	chr19:39239639-39239640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368682669	chr19:39239658-39239659	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs139944530	chr19:39239685-39239686	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543164966	chr19:39239703-39239704	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs62120087	chr19:39239704-39239705	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576478823	chr19:39239709-39239710	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs188341534	chr19:39239711-39239712	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs371379761	chr19:39239741-39239742	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs564922243	chr19:39239764-39239765	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs532339761	chr19:39239814-39239815	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs34611028	chr19:39239815-39239816	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs371230187	chr19:39239822-39239823	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs547411563	chr19:39239849-39239850	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs140578287	chr19:39239850-39239851	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs534672873	chr19:39239861-39239862	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs555262648	chr19:39239872-39239873	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144153290	chr19:39239967-39239968	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533368811	chr19:39239968-39239969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75463706	chr19:39239977-39239978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527602477	chr19:39239981-39239982	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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