Variant report

Variant	nsv961243
Chromosome Location	chr19:53776007-53776831
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	chr19:53774628..53776274-chr19:53777099..53779509,2	K562	blood:
2	chr19:53770819..53772860-chr19:53775031..53777712,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228567	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575943603	chr19:53776030-53776031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539710186	chr19:53776033-53776034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558013616	chr19:53776035-53776036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576388469	chr19:53776037-53776038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193023663	chr19:53776147-53776148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150204957	chr19:53776202-53776203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574040117	chr19:53776261-53776262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367816481	chr19:53776283-53776284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543949679	chr19:53776313-53776314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541233386	chr19:53776369-53776370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559563740	chr19:53776415-53776416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563952990	chr19:53776428-53776429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533278952	chr19:53776434-53776435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28670871	chr19:53776436-53776437	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144218206	chr19:53776503-53776504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563575615	chr19:53776523-53776524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530468974	chr19:53776566-53776567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548952948	chr19:53776570-53776571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184599610	chr19:53776591-53776592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138796268	chr19:53776596-53776597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547605975	chr19:53776606-53776607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187423553	chr19:53776622-53776623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2914357	chr19:53776668-53776669	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542764586	chr19:53776739-53776740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558078723	chr19:53776745-53776746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111265996	chr19:53776759-53776760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377241412	chr19:53776774-53776775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528729759	chr19:53776790-53776791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150997841	chr19:53776803-53776804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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