Variant report

Variant	nsv978756
Chromosome Location	chr19:53731680-53733838
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	chr19:53722523..53724411-chr19:53731343..53734094,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182640350	chr19:53731745-53731746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4803071	chr19:53731754-53731755	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs140906068	chr19:53731761-53731762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573088694	chr19:53731779-53731780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540399966	chr19:53731796-53731797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186963525	chr19:53731812-53731813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs74536073	chr19:53731833-53731834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577251053	chr19:53731839-53731840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544515892	chr19:53731847-53731848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562533175	chr19:53731908-53731909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574172197	chr19:53731966-53731967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs574337073	chr19:53732004-53732005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191504826	chr19:53732053-53732054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35342324	chr19:53732068-53732069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77970011	chr19:53732082-53732083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs77303823	chr19:53732083-53732084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375585276	chr19:53732102-53732103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs368629485	chr19:53732123-53732124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12982818	chr19:53732155-53732156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150084744	chr19:53732232-53732233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113215873	chr19:53732257-53732258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111798653	chr19:53732258-53732259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528666815	chr19:53732275-53732276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546753454	chr19:53732291-53732292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565124299	chr19:53732339-53732340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182208406	chr19:53732344-53732345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550967526	chr19:53732346-53732347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569265922	chr19:53732428-53732429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549603037	chr19:53732528-53732529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs12984150	chr19:53732590-53732591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548684140	chr19:53732598-53732599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138543187	chr19:53732607-53732608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs140247460	chr19:53732611-53732612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145314566	chr19:53732619-53732620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577091533	chr19:53732664-53732665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187751712	chr19:53732701-53732702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs193113538	chr19:53732704-53732705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185620789	chr19:53732716-53732717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs74256699	chr19:53732796-53732797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140748168	chr19:53732828-53732829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs28687376	chr19:53732867-53732868	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547271648	chr19:53732874-53732875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541415848	chr19:53732948-53732949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560204825	chr19:53732968-53732969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531764855	chr19:53732981-53732982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545488257	chr19:53732990-53732991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs565162780	chr19:53733017-53733018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs193144292	chr19:53733088-53733089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4411615	chr19:53733101-53733102	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs184319690	chr19:53733136-53733137	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
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	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
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53727000-53731800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:53728200-53748800	ZNF genes & repeats	Liver	Liver
3	chr19:53729000-53732600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:53731800-53732400	ZNF genes & repeats	Aorta	Aorta
5	chr19:53731800-53732400	ZNF genes & repeats	Right Ventricle	heart
6	chr19:53733400-53734600	ZNF genes & repeats	Left Ventricle	heart
7	chr19:53733600-53734800	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:53733600-53735200	ZNF genes & repeats	Ovary	ovary
9	chr19:53733600-53736200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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