Variant report

Variant	nsv580380
Chromosome Location	chr19:56867396-56869794
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	chr19:56861231..56864651-chr19:56864910..56868187,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571691072	chr19:56867422-56867423	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs573684076	chr19:56867432-56867433	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535815834	chr19:56867527-56867528	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552564529	chr19:56867530-56867531	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573182231	chr19:56867531-56867532	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545320704	chr19:56867532-56867533	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565470420	chr19:56867535-56867536	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575786223	chr19:56867584-56867585	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs185533188	chr19:56867590-56867591	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561181646	chr19:56867629-56867630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543342864	chr19:56867645-56867646	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530241148	chr19:56867667-56867668	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546984834	chr19:56867687-56867688	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561521218	chr19:56867693-56867694	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113245695	chr19:56867717-56867718	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527292879	chr19:56867721-56867722	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528374526	chr19:56867743-56867744	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10424676	chr19:56867745-56867746	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571411395	chr19:56867746-56867747	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536798376	chr19:56867773-56867774	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550773945	chr19:56867868-56867869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567213750	chr19:56867919-56867920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372885873	chr19:56867932-56867933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535975167	chr19:56867933-56867934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552527846	chr19:56867935-56867936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191178741	chr19:56868126-56868127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538933977	chr19:56868194-56868195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112814084	chr19:56868219-56868220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575900022	chr19:56868261-56868262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544453453	chr19:56868272-56868273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555162636	chr19:56868303-56868304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375831796	chr19:56868345-56868346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563852414	chr19:56868361-56868362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145060738	chr19:56868379-56868380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532933009	chr19:56868389-56868390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6509992	chr19:56868535-56868536	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148286247	chr19:56868536-56868537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116844074	chr19:56868613-56868614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79135683	chr19:56868672-56868673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140456458	chr19:56868730-56868731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188322407	chr19:56868767-56868768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530847896	chr19:56868768-56868769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372015944	chr19:56868798-56868799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs117251568	chr19:56868817-56868818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567151015	chr19:56868833-56868834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73621209	chr19:56868927-56868928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546326982	chr19:56868947-56868948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193271048	chr19:56868963-56868964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371164552	chr19:56868985-56868986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376611187	chr19:56869011-56869012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56855000-56870200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr19:56859400-56872800	Weak transcription	Ovary	ovary
3	chr19:56862000-56868400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:56863000-56872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:56866200-56871000	Weak transcription	Primary T cells from cord blood	blood
6	chr19:56866800-56867600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:56867200-56867600	Flanking Active TSS	HepG2	liver
8	chr19:56867200-56867800	Flanking Active TSS	Liver	Liver
9	chr19:56867600-56867800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:56867600-56868400	Enhancers	HepG2	liver
11	chr19:56867800-56868000	Enhancers	Liver	Liver
12	chr19:56868400-56868800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:56869400-56872400	Weak transcription	Left Ventricle	heart

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