Variant report

Variant	esv2394825
Chromosome Location	chr19:36311013-36311015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36207093..36207844-chr19:36310862..36311467,2	MCF-7	breast:
2	chr19:36207922..36208687-chr19:36310659..36311315,2	MCF-7	breast:
3	chr19:36184431..36185252-chr19:36310666..36311379,3	MCF-7	breast:
4	chr19:36184372..36185301-chr19:36310613..36311702,6	K562	blood:
5	chr19:36310142..36312511-chr19:36338610..36340461,2	K562	blood:
6	chr19:36184588..36185432-chr19:36310650..36311616,2	MCF-7	breast:
7	chr19:36039616..36040774-chr19:36310651..36311548,4	K562	blood:
8	chr19:36207031..36209007-chr19:36310284..36312197,2	MCF-7	breast:
9	chr19:36207753..36208395-chr19:36310728..36311348,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPHS1-1	chr19:36309325-36311606	ucscGeneNc_uc002nsx_1

No data

Variant related genes	Relation type
ENSG00000272333	chromatin interactions
ENSG00000161270	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73928315	chr19:36311013-36311014	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36303400-36319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:36310000-36311200	Bivalent Enhancer	A549	lung
3	chr19:36310400-36311200	Enhancers	Liver	Liver
4	chr19:36310600-36311200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr19:36310600-36311200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:36310600-36311200	Bivalent Enhancer	Fetal Brain Male	brain
7	chr19:36311000-36313400	Weak transcription	K562	blood

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