Variant report

Variant	esv3318660
Chromosome Location	chr19:56713350-56722152
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	BRCA1	chr19:56720561-56720808	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr19:56720517-56720847	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr19:56716430-56716674	HepG2	liver:	n/a	chr19:56716533-56716544
4	CEBPB	chr19:56716429-56716798	A549	lung:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
5	CEBPB	chr19:56716455-56716760	IMR90	lung:	n/a	chr19:56716533-56716544
6	CEBPB	chr19:56716360-56717024	Hela-S3	cervix:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
7	CEBPB	chr19:56716510-56716908	K562	blood:	n/a	chr19:56716763-56716774 chr19:56716533-56716544 chr19:56716763-56716774 chr19:56716761-56716774 chr19:56716761-56716774
8	CHD2	chr19:56720635-56720730	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr19:56720040-56720297	K562	blood:	n/a	n/a
10	CTCF	chr19:56718992-56719287	K562	blood:	n/a	n/a
11	CTCF	chr19:56717496-56717536	Lung_OC	lung:	n/a	n/a
12	CTCF	chr19:56719050-56719211	LNCaP	prostate:	n/a	n/a
13	CTCF	chr19:56719180-56719330	HEK293	kidney:	n/a	n/a
14	CTCF	chr19:56718648-56718688	GM20000	blood:	n/a	n/a
15	CTCF	chr19:56719180-56719330	HepG2	liver:	n/a	n/a
16	CTCF	chr19:56719139-56719185	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr19:56717973-56718013	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr19:56719125-56719164	NHEK	skin:	n/a	n/a
19	CTCF	chr19:56719019-56719288	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr19:56719180-56719330	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr19:56718336-56718366	GM13977	blood:	n/a	n/a
22	CTCF	chr19:56719136-56719206	MCF-7	breast:	n/a	n/a
23	CTCF	chr19:56719082-56719218	MCF-7	breast:	n/a	n/a
24	CTCF	chr19:56719033-56719288	K562	blood:	n/a	n/a
25	CTCF	chr19:56720338-56720341	HepG2	liver:	n/a	n/a
26	CTCF	chr19:56717450-56717530	GM10248	blood:	n/a	n/a
27	CTCF	chr19:56719060-56719210	K562	blood:	n/a	n/a
28	CTCF	chr19:56719078-56719262	GM12891	blood:	n/a	n/a
29	CTCF	chr19:56718991-56719322	K562	blood:	n/a	n/a
30	CTCF	chr19:56719099-56719220	HepG2	liver:	n/a	n/a
31	CTCF	chr19:56719090-56719220	ProgFib	skin:	n/a	n/a
32	CTCF	chr19:56719073-56719254	K562	blood:	n/a	n/a
33	CTCF	chr19:56719220-56719370	K562	blood:	n/a	n/a
34	CTCF	chr19:56719090-56719183	GM13977	blood:	n/a	n/a
35	CTCF	chr19:56719077-56719196	GM19239	blood:	n/a	n/a
36	CTCF	chr19:56719180-56719330	GM12864	blood:	n/a	n/a
37	CTCF	chr19:56715762-56715839	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr19:56719096-56719240	Gliobla	brain:	n/a	n/a
39	CTCF	chr19:56719082-56719234	MCF-7	breast:	n/a	n/a
40	CTCF	chr19:56719076-56719210	GM10248	blood:	n/a	n/a
41	CTCF	chr19:56719079-56719185	GM12878	blood:	n/a	n/a
42	CTCF	chr19:56720375-56720428	K562	blood:	n/a	n/a
43	CTCF	chr19:56719092-56719277	Fibrobl	skin:	n/a	n/a
44	CTCF	chr19:56719115-56719186	GM12892	blood:	n/a	n/a
45	CTCF	chr19:56715929-56716008	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr19:56719091-56719182	Medullo	brain:	n/a	n/a
47	CTCF	chr19:56718988-56719220	K562	blood:	n/a	n/a
48	CTCF	chr19:56719041-56719244	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr19:56717462-56717501	LNCaP	prostate:	n/a	n/a
50	CTCF	chr19:56720342-56720426	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56717707..56719210-chr19:56732793..56735030,2	MCF-7	breast:

Variant related genes	Relation type
ZSCAN5B	TF binding region
ZSCAN5C	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531068512	chr19:56714450-56714451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550690073	chr19:56714468-56714469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536392714	chr19:56715768-56715769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs546617887	chr19:56715807-56715808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566480732	chr19:56715819-56715820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs181501166	chr19:56715830-56715831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186466761	chr19:56715931-56715932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560068580	chr19:56715965-56715966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190847411	chr19:56715974-56715975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566442570	chr19:56716360-56716361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144518410	chr19:56716393-56716394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs12984780	chr19:56716395-56716396	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535351948	chr19:56716413-56716414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs117424106	chr19:56716458-56716459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538194692	chr19:56716467-56716468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555142032	chr19:56716521-56716522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184041575	chr19:56716527-56716528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs533987858	chr19:56716529-56716530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs553863558	chr19:56716561-56716562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs12709954	chr19:56716579-56716580	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs113166193	chr19:56716653-56716654	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs534693551	chr19:56716675-56716676	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186119083	chr19:56716707-56716708	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532031109	chr19:56716715-56716716	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544185616	chr19:56716728-56716729	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561026522	chr19:56716739-56716740	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529932818	chr19:56716786-56716787	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs540305088	chr19:56716804-56716805	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560265942	chr19:56716844-56716845	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190939782	chr19:56716852-56716853	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs552139323	chr19:56716903-56716904	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73065794	chr19:56716921-56716922	Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12232868	chr19:56716982-56716983	Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551830297	chr19:56717021-56717022	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs548610547	chr19:56717027-56717028	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs568280278	chr19:56717028-56717029	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs147316078	chr19:56717053-56717054	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs79352363	chr19:56717078-56717079	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs141046714	chr19:56717085-56717086	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539595056	chr19:56717130-56717131	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs556476651	chr19:56717187-56717188	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs576370772	chr19:56717188-56717189	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs28712522	chr19:56717194-56717195	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554926568	chr19:56717195-56717196	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56716600-56717200	Bivalent Enhancer	Hela-S3	cervix

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