Variant report

Variant	esv3345798
Chromosome Location	chr19:56495622-56496187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11669288	chr19:56495824-56495825	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547780277	chr19:56495826-56495827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs113987697	chr19:56495849-56495850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs55975044	chr19:56495850-56495851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375405959	chr19:56495875-56495876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191652002	chr19:56495881-56495882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144885346	chr19:56495911-56495912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs306467	chr19:56495969-56495970	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372033067	chr19:56495974-56495975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs56110121	chr19:56495975-56495976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550455942	chr19:56495977-56495978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189864159	chr19:56495995-56495996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74718467	chr19:56496020-56496021	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149144840	chr19:56496022-56496023	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79017397	chr19:56496023-56496024	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201451576	chr19:56496038-56496039	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs199781026	chr19:56496039-56496040	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111269423	chr19:56496041-56496042	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs56274866	chr19:56496043-56496044	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs200907587	chr19:56496044-56496045	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535896762	chr19:56496089-56496090	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555785399	chr19:56496091-56496092	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527874174	chr19:56496145-56496146	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572439898	chr19:56496151-56496152	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535147695	chr19:56496168-56496169	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56495800-56496400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:56496000-56496200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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