Variant report

Variant	nsv961242
Chromosome Location	chr19:53772559-53774518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:53774461-53774521	Fibrobl	skin:	n/a	n/a
2	CTCF	chr19:53774189-53774258	GM19239	blood:	n/a	n/a
3	MYC	chr19:53774197-53774203	GM12878	blood:	n/a	n/a
4	MYC	chr19:53774209-53774352	GM12878	blood:	n/a	n/a
5	NR2F2	chr19:53772657-53773041	K562	blood:	n/a	n/a
6	NR2F2	chr19:53772668-53773046	K562	blood:	n/a	n/a
7	PAX5	chr19:53773564-53773862	GM12878	blood:	n/a	n/a
8	PAX5	chr19:53773633-53773846	GM12878	blood:	n/a	n/a
9	PAX5	chr19:53773590-53773905	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000269758	TF binding region
VN1R4	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565710868	chr19:53772658-53772659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370522319	chr19:53772659-53772660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533283069	chr19:53772667-53772668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551732694	chr19:53772682-53772683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs10421203	chr19:53772683-53772684	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10422453	chr19:53772704-53772705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35045414	chr19:53772724-53772725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374583842	chr19:53772775-53772776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567364602	chr19:53772792-53772793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534373165	chr19:53772812-53772813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs28716193	chr19:53772846-53772847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs572511673	chr19:53772885-53772886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12611402	chr19:53772894-53772895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558078734	chr19:53772912-53772913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576319241	chr19:53772922-53772923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs59864002	chr19:53772946-53772947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561890401	chr19:53772948-53772949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs575401155	chr19:53772949-53772950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541134179	chr19:53772956-53772957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201601344	chr19:53772993-53772994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs367832864	chr19:53773037-53773038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531057092	chr19:53773574-53773575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs549544067	chr19:53773583-53773584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs111487148	chr19:53773586-53773587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7246115	chr19:53773595-53773596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs12972047	chr19:53773606-53773607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7245876	chr19:53773607-53773608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571634966	chr19:53773611-53773612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539017270	chr19:53773625-53773626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11665861	chr19:53773626-53773627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575684881	chr19:53773631-53773632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs192983166	chr19:53773647-53773648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554701929	chr19:53773651-53773652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs36050569	chr19:53773652-53773653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs540489649	chr19:53773671-53773672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7246256	chr19:53773687-53773688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181143820	chr19:53773696-53773697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377168782	chr19:53773709-53773710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs149566185	chr19:53773729-53773730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562281860	chr19:53773735-53773736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529752595	chr19:53773741-53773742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs144264654	chr19:53773751-53773752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs567817830	chr19:53773760-53773761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs556847561	chr19:53773768-53773769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs12459083	chr19:53773796-53773797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547351914	chr19:53773805-53773806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183876150	chr19:53773815-53773816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539081088	chr19:53773816-53773817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs557353191	chr19:53773841-53773842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12459536	chr19:53773862-53773863	Inactive region	TF binding 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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