Variant report

Variant	nsv580384
Chromosome Location	chr19:56868144-56869794
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: 55 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538933977	chr19:56868194-56868195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112814084	chr19:56868219-56868220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575900022	chr19:56868261-56868262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544453453	chr19:56868272-56868273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555162636	chr19:56868303-56868304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375831796	chr19:56868345-56868346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563852414	chr19:56868361-56868362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145060738	chr19:56868379-56868380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532933009	chr19:56868389-56868390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6509992	chr19:56868535-56868536	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148286247	chr19:56868536-56868537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs116844074	chr19:56868613-56868614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79135683	chr19:56868672-56868673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140456458	chr19:56868730-56868731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188322407	chr19:56868767-56868768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs530847896	chr19:56868768-56868769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372015944	chr19:56868798-56868799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117251568	chr19:56868817-56868818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567151015	chr19:56868833-56868834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73621209	chr19:56868927-56868928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546326982	chr19:56868947-56868948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193271048	chr19:56868963-56868964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371164552	chr19:56868985-56868986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376611187	chr19:56869011-56869012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538213066	chr19:56869013-56869014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370034645	chr19:56869032-56869033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183148720	chr19:56869060-56869061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535382417	chr19:56869275-56869276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112623772	chr19:56869302-56869303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538566478	chr19:56869311-56869312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191125424	chr19:56869321-56869322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549264021	chr19:56869325-56869326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375425449	chr19:56869381-56869382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367748699	chr19:56869385-56869386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554268740	chr19:56869389-56869390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56162902	chr19:56869462-56869463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138634793	chr19:56869470-56869471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113366112	chr19:56869512-56869513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537110345	chr19:56869517-56869518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535035863	chr19:56869526-56869527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562934370	chr19:56869575-56869576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530692927	chr19:56869576-56869577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544539908	chr19:56869634-56869635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560738541	chr19:56869635-56869636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529795939	chr19:56869651-56869652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546390279	chr19:56869657-56869658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112224719	chr19:56869683-56869684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183594560	chr19:56869709-56869710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113324561	chr19:56869710-56869711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147403992	chr19:56869736-56869737	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:8 , 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	chr19:56867600-56868400	Enhancers	HepG2	liver
7	chr19:56868400-56868800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:56869400-56872400	Weak transcription	Left Ventricle	heart

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