Variant report

Variant	esv3344183
Chromosome Location	chr19:56357100-56360032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536440647	chr19:56357809-56357810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564080581	chr19:56357847-56357848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181398346	chr19:56357885-56357886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs396189	chr19:56357906-56357907	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186595663	chr19:56357938-56357939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528945966	chr19:56357942-56357943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549574858	chr19:56357948-56357949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs137933925	chr19:56357953-56357954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149028266	chr19:56357994-56357995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533593334	chr19:56357999-56358000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542595518	chr19:56359407-56359408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs560450819	chr19:56359420-56359421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145410139	chr19:56359438-56359439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs10417674	chr19:56359440-56359441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147829353	chr19:56359450-56359451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187295911	chr19:56359496-56359497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148870469	chr19:56359501-56359502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs115106020	chr19:56359507-56359508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536522254	chr19:56359551-56359552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552700436	chr19:56359556-56359557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs142724300	chr19:56359580-56359581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs151006950	chr19:56359619-56359620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558279169	chr19:56359621-56359622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs424621	chr19:56359633-56359634	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192238847	chr19:56359702-56359703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140747965	chr19:56359712-56359713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs415855	chr19:56359744-56359745	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs402099	chr19:56359771-56359772	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10417215	chr19:56359802-56359803	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12609633	chr19:56359810-56359811	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10421934	chr19:56359825-56359826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563002518	chr19:56359839-56359840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111323262	chr19:56359843-56359844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531808297	chr19:56359853-56359854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145318996	chr19:56359879-56359880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375545	chr19:56359907-56359908	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7258004	chr19:56359931-56359932	ZNF genes & repeats	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
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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56357800-56358000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:56359400-56361200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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