Variant report

Variant	esv3412160
Chromosome Location	chr19:45048353-45048856
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	chr19:45047614..45049605-chr19:45049708..45052622,2	K562	blood:
2	chr19:45047129..45048751-chr19:45051297..45052862,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230666	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181334024	chr19:45048378-45048379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1661176	chr19:45048379-45048380	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570863707	chr19:45048436-45048437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73936519	chr19:45048493-45048494	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553393156	chr19:45048538-45048539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567615055	chr19:45048545-45048546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536980502	chr19:45048606-45048607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1661175	chr19:45048629-45048630	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10408346	chr19:45048635-45048636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545141256	chr19:45048637-45048638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1661174	chr19:45048658-45048659	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572428166	chr19:45048676-45048677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186854170	chr19:45048684-45048685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561295835	chr19:45048741-45048742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1661173	chr19:45048779-45048780	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs542926231	chr19:45048783-45048784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1727749	chr19:45048806-45048807	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45040400-45049600	Weak transcription	Right Atrium	heart
2	chr19:45048000-45052200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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