Variant report

Variant	esv3432459
Chromosome Location	chr19:52618470-52618691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:52618495-52619228	K562	blood:	n/a	n/a
2	ETS1	chr19:52618553-52619079	A549	lung:	n/a	n/a
3	ETS1	chr19:52618555-52619227	K562	blood:	n/a	n/a
4	GATA3	chr19:52618394-52619450	A549	lung:	n/a	n/a
5	GTF2F1	chr19:52618544-52619000	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUN	chr19:52618615-52618782	K562	blood:	n/a	n/a
7	KAP1	chr19:52617833-52620170	K562	blood:	n/a	n/a
8	KAP1	chr19:52618019-52619893	HEK293	kidney:	n/a	n/a
9	KAP1	chr19:52618377-52619357	U2OS	brain:	n/a	n/a
10	POLR2A	chr19:52614555-52619150	K562	blood:	n/a	n/a
11	SETDB1	chr19:52617417-52620125	K562	blood:	n/a	n/a
12	SETDB1	chr19:52615173-52620040	U2OS	brain:	n/a	n/a
13	STAT3	chr19:52618619-52618819	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr19:52618361-52619536	A549	lung:	n/a	n/a
15	USF1	chr19:52618593-52618977	ECC-1	luminal epithelium:	n/a	n/a
16	ZNF143	chr19:52618590-52619255	K562	blood:	n/a	n/a
17	ZNF143	chr19:52618659-52619147	GM12878	blood:	n/a	n/a
18	ZNF143	chr19:52618619-52619217	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF274	chr19:52617687-52619828	GM08714	blood:	n/a	n/a
20	ZNF274	chr19:52618362-52619962	GM12878	blood:	n/a	n/a
21	ZNF274	chr19:52618088-52620030	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF274	chr19:52617264-52620480	K562	blood:	n/a	n/a
23	ZNF274	chr19:52618235-52619962	HepG2	liver:	n/a	n/a
24	ZNF274	chr19:52618379-52619819	K562	blood:	n/a	n/a
25	ZNF274	chr19:52618164-52619817	NT2-D1	testis:	n/a	n/a
26	ZNF274	chr19:52618301-52619635	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52551129..52553978-chr19:52617464..52619426,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270248	TF binding region
ENSG00000256087	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45622033	chr19:52618471-52618472	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115812880	chr19:52618483-52618484	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145074631	chr19:52618484-52618485	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35304389	chr19:52618489-52618490	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs45591734	chr19:52618506-52618507	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs367797613	chr19:52618529-52618530	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116130534	chr19:52618555-52618556	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs114303037	chr19:52618609-52618610	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146321819	chr19:52618620-52618621	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34784520	chr19:52618637-52618638	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200761496	chr19:52618670-52618671	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs58300880	chr19:52618671-52618672	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142603712	chr19:52618675-52618676	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533923977	chr19:52618678-52618679	ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	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
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52606800-52640200	ZNF genes & repeats	Liver	Liver
2	chr19:52607000-52634000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:52609800-52639000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:52609800-52640200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:52610600-52631800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:52612600-52629600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:52613400-52629800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr19:52613600-52629400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:52613600-52639000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:52615000-52624200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
11	chr19:52615200-52620200	ZNF genes & repeats	Fetal Brain Male	brain
12	chr19:52615200-52640200	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:52615400-52625000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr19:52615600-52640200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:52615800-52620000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:52615800-52625000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:52615800-52631400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr19:52616000-52620000	ZNF genes & repeats	Aorta	Aorta
19	chr19:52616000-52623800	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr19:52616000-52625000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:52616200-52625000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:52616200-52631600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr19:52616200-52632600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr19:52616200-52634200	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr19:52616200-52640000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:52616200-52641200	ZNF genes & repeats	Dnd41	blood
27	chr19:52616200-52641400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:52616200-52641600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:52616400-52623200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:52616400-52624800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:52616400-52625000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:52616400-52629600	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr19:52616400-52633000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr19:52616400-52641400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:52616600-52620200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr19:52616600-52620200	ZNF genes & repeats	Fetal Heart	heart
37	chr19:52616600-52622600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr19:52616600-52623400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr19:52616600-52624000	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr19:52616600-52625000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr19:52616800-52620200	ZNF genes & repeats	Left Ventricle	heart
42	chr19:52616800-52622800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:52616800-52623000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:52616800-52623800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
45	chr19:52616800-52629400	ZNF genes & repeats	Fetal Lung	lung
46	chr19:52616800-52634000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr19:52617000-52624000	ZNF genes & repeats	HSMM	muscle
48	chr19:52617000-52640200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr19:52617200-52620400	ZNF genes & repeats	Brain Angular Gyrus	brain
50	chr19:52617200-52629600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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