Variant report

Variant	esv1803164
Chromosome Location	chr19:39768216-39775241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39773610..39775882-chr19:39798355..39800719,2	K562	blood:
2	chr19:39772630..39774259-chr19:39774538..39776448,2	K562	blood:
3	chr19:39772630..39774259-chr19:39774538..39776448,2	K562	blood:
4	chr19:39766722..39768435-chr19:39797064..39798738,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 66 )

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	rs11665818	chr19:39768216-39768217	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541541187	chr19:39768259-39768260	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs73050471	chr19:39768303-39768304	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs140319072	chr19:39768304-39768305	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs67914309	chr19:39768358-39768359	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs367898027	chr19:39768369-39768370	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs370461925	chr19:39768377-39768378	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs553499034	chr19:39768402-39768403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146977194	chr19:39768403-39768404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542459880	chr19:39768421-39768422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557376750	chr19:39768474-39768475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576045970	chr19:39768509-39768510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78743993	chr19:39768565-39768566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147649949	chr19:39768577-39768578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60885838	chr19:39768602-39768603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531291842	chr19:39768628-39768629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184262868	chr19:39768655-39768656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61535148	chr19:39768687-39768688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142262931	chr19:39768700-39768701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549502372	chr19:39768745-39768746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568096303	chr19:39768758-39768759	Enhancers	n/a	n/a	Overlapped CNVs	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
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
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
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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39767600-39768800	Enhancers	Stomach Mucosa	stomach
2	chr19:39768000-39768400	Enhancers	Liver	Liver
3	chr19:39768000-39768400	Enhancers	Fetal Intestine Small	intestine
4	chr19:39768000-39768400	Enhancers	HepG2	liver
5	chr19:39768000-39768800	Enhancers	Placenta	Placenta
6	chr19:39768200-39768400	Bivalent Enhancer	A549	lung
7	chr19:39768400-39768600	Enhancers	A549	lung

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