Variant report

Variant	esv3404514
Chromosome Location	chr19:56745965-56748513
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	BATF	chr19:56745875-56746197	GM12878	blood:	n/a	n/a
2	CTCF	chr19:56747369-56747409	GM10266	blood:	n/a	n/a
3	FOXM1	chr19:56745873-56746178	GM12878	blood:	n/a	n/a
4	NFIC	chr19:56745797-56746224	GM12878	blood:	n/a	n/a
5	PAX5	chr19:56745976-56746187	GM12878	blood:	n/a	n/a
6	PAX5	chr19:56745889-56746198	GM12878	blood:	n/a	n/a
7	PAX5	chr19:56745957-56746243	GM12878	blood:	n/a	n/a
8	PAX5	chr19:56745977-56746128	GM12878	blood:	n/a	n/a
9	PBX3	chr19:56746022-56746158	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:56746036-56746248	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:56746097-56746189	K562	blood:	n/a	n/a
12	REST	chr19:56746352-56746635	PANC-1	pancreas:	n/a	n/a
13	REST	chr19:56746390-56746513	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZSCAN5D	TF binding region

Extended variants
information (count: 166 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527553076	chr19:56745988-56745989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569022580	chr19:56746025-56746026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538030636	chr19:56746057-56746058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548413932	chr19:56746058-56746059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58149761	chr19:56746063-56746064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74196660	chr19:56746079-56746080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398059862	chr19:56746081-56746082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34876706	chr19:56746082-56746083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62122498	chr19:56746083-56746084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2868537	chr19:56746117-56746118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76077303	chr19:56746179-56746180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10853886	chr19:56746180-56746181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs386811191	chr19:56746184-56746185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548067070	chr19:56746187-56746188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571162210	chr19:56746214-56746215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12104279	chr19:56746272-56746273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112016292	chr19:56746277-56746278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189772849	chr19:56746278-56746279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535919278	chr19:56746307-56746308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113178057	chr19:56746308-56746309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73621014	chr19:56746333-56746334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566027277	chr19:56746390-56746391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368502187	chr19:56746428-56746429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62122499	chr19:56746429-56746430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs62122500	chr19:56746433-56746434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112764365	chr19:56746444-56746445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113923817	chr19:56746450-56746451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62122501	chr19:56746455-56746456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376618727	chr19:56746467-56746468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368672105	chr19:56746479-56746480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112512023	chr19:56746485-56746486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62122502	chr19:56746490-56746491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371998444	chr19:56746514-56746515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111573760	chr19:56746520-56746521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576767783	chr19:56746523-56746524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74182593	chr19:56746534-56746535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113171690	chr19:56746538-56746539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74182594	chr19:56746549-56746550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71184340	chr19:56746563-56746564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75651460	chr19:56746584-56746585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112603320	chr19:56746590-56746591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376237374	chr19:56746608-56746609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368481199	chr19:56746642-56746643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71352852	chr19:56746654-56746655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71352860	chr19:56746660-56746661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71352875	chr19:56746665-56746666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62122504	chr19:56746674-56746675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71352856	chr19:56746678-56746679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376323926	chr19:56746689-56746690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71352867	chr19:56746700-56746701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56734600-56756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:56735200-56749200	Weak transcription	Spleen	Spleen
4	chr19:56735400-56774400	Weak transcription	Primary T cells from cord blood	blood
5	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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