Variant report

Variant	nsv580345
Chromosome Location	chr19:56224184-56231144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56230205..56232527-chr19:56319829..56322446,2	K562	blood:
2	chr19:56225201..56225701-chr7:100217318..100218312,2	MCF-7	breast:
3	chr19:56207378..56209442-chr19:56222061..56224992,2	K562	blood:
4	chr19:56223391..56225546-chr19:56227295..56229501,3	K562	blood:
5	chr19:56220865..56224676-chr19:56230629..56233910,4	K562	blood:
6	chr19:56223566..56226143-chr19:56226650..56230434,4	K562	blood:
7	chr19:56214305..56217905-chr19:56226620..56229782,3	K562	blood:
8	chr19:56221006..56222567-chr19:56226500..56228203,2	K562	blood:
9	chr19:56220865..56224676-chr19:56230629..56233910,4	K562	blood:
10	chr19:56223566..56226143-chr19:56226650..56230434,4	K562	blood:
11	chr19:56223391..56225546-chr19:56227295..56229501,3	K562	blood:
12	chr19:56153424..56156443-chr19:56220513..56224838,3	K562	blood:
13	chr19:56223858..56225860-chr19:56232350..56234424,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267018	chromatin interactions
ENSG00000267689	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000203305	chromatin interactions
ENSG00000213015	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572010865	chr19:56224189-56224190	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs111379144	chr19:56224193-56224194	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs540595353	chr19:56224194-56224195	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs140976970	chr19:56224211-56224212	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs184644764	chr19:56224229-56224230	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs189437310	chr19:56224242-56224243	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs201843478	chr19:56224243-56224244	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs550843868	chr19:56224278-56224279	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs557346631	chr19:56224284-56224285	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs577301904	chr19:56224286-56224287	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs62126978	chr19:56224320-56224321	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs558030826	chr19:56224325-56224326	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs578029757	chr19:56224326-56224327	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs373159397	chr19:56224341-56224342	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs144031917	chr19:56224365-56224366	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201190302	chr19:56224425-56224426	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs373311545	chr19:56224430-56224431	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs546485740	chr19:56224444-56224445	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs180882970	chr19:56224462-56224463	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs541615314	chr19:56224482-56224483	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs186120984	chr19:56224487-56224488	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs542857191	chr19:56224530-56224531	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs559971441	chr19:56224543-56224544	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs528812375	chr19:56224561-56224562	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs551787788	chr19:56224588-56224589	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs73933316	chr19:56224610-56224611	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs564577164	chr19:56224611-56224612	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs368860759	chr19:56224684-56224685	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs181112846	chr19:56224693-56224694	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs551091609	chr19:56224701-56224702	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs567662597	chr19:56224713-56224714	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs76070306	chr19:56224724-56224725	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs148703288	chr19:56224731-56224732	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs35350476	chr19:56224743-56224744	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs546587516	chr19:56224758-56224759	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs565602886	chr19:56224759-56224760	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs80062411	chr19:56224769-56224770	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs151211615	chr19:56224771-56224772	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs73062410	chr19:56224778-56224779	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562199633	chr19:56224801-56224802	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs546756877	chr19:56224803-56224804	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs185792138	chr19:56224807-56224808	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs141143928	chr19:56224808-56224809	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs144997128	chr19:56224810-56224811	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs147595718	chr19:56224814-56224815	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs543174355	chr19:56224821-56224822	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs112533764	chr19:56224823-56224824	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs371875357	chr19:56224849-56224850	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545760582	chr19:56224874-56224875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs116153828	chr19:56224884-56224885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56215800-56228000	Weak transcription	Pancreas	Pancrea
2	chr19:56216400-56224400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:56224000-56224200	Flanking Active TSS	HSMM	muscle
4	chr19:56224200-56224400	Active TSS	HSMM	muscle
5	chr19:56224400-56224600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:56224400-56224600	Enhancers	HSMM	muscle
7	chr19:56224600-56224800	Weak transcription	HSMM	muscle
8	chr19:56224800-56225400	Enhancers	HSMM	muscle
9	chr19:56226400-56226600	Enhancers	Lung	lung
10	chr19:56228000-56228200	ZNF genes & repeats	Pancreas	Pancrea
11	chr19:56229000-56229400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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