Variant report

Variant	esv1159160
Chromosome Location	chr19:53106007-53106009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:53103821-53106145	IMR90	lung:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
2	POLR2A	chr19:53105917-53106064	K562	blood:	n/a	n/a
3	ZNF384	chr19:53105919-53106032	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53100001..53102540-chr19:53104328..53106583,2	MCF-7	breast:
2	chr19:53030382..53031999-chr19:53102744..53106373,4	K562	blood:
3	chr19:53104394..53106484-chr19:53154672..53157186,2	K562	blood:
4	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:
5	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:
6	chr19:53105962..53107575-chr19:53107742..53110699,2	MCF-7	breast:
7	chr19:52771721..52774334-chr19:53104602..53106334,2	MCF-7	breast:
8	chr19:53091479..53093203-chr19:53104357..53107211,2	MCF-7	breast:
9	chr19:53100919..53102551-chr19:53104466..53106179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268970	TF binding region
ENSG00000196214	chromatin interactions
ENSG00000198482	chromatin interactions
ENSG00000123870	chromatin interactions
ENSG00000269825	chromatin interactions
ENSG00000268970	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 65 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67941747	chr19:53106008-53106009	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53104000-53106200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:53105000-53115800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:53105200-53115800	Weak transcription	HUVEC	blood vessel
4	chr19:53105200-53116200	Weak transcription	Left Ventricle	heart
5	chr19:53105200-53116600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:53105200-53120200	Weak transcription	Aorta	Aorta
7	chr19:53105400-53106200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:53105400-53106200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:53105400-53106200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:53105400-53106200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:53105400-53106200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr19:53105400-53106200	Enhancers	Fetal Muscle Trunk	muscle
13	chr19:53105400-53107000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr19:53105400-53108000	Weak transcription	Fetal Stomach	stomach
15	chr19:53105400-53108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:53105400-53114800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:53105400-53115600	Weak transcription	HSMM	muscle
18	chr19:53105400-53116000	Weak transcription	Fetal Brain Female	brain
19	chr19:53105400-53116400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:53105400-53116400	Weak transcription	Ovary	ovary
21	chr19:53105400-53121200	Weak transcription	Fetal Brain Male	brain
22	chr19:53105600-53106200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:53105600-53106200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:53105600-53106200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr19:53105600-53106400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:53105600-53106400	Enhancers	Thymus	Thymus
27	chr19:53105600-53106600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:53105600-53106600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr19:53105600-53106800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:53105600-53107000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:53105600-53107600	Enhancers	Osteobl	bone
32	chr19:53105600-53107800	Weak transcription	Colonic Mucosa	Colon
33	chr19:53105600-53107800	Weak transcription	NHEK	skin
34	chr19:53105600-53108000	Weak transcription	Spleen	Spleen
35	chr19:53105600-53108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:53105600-53108800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:53105600-53109000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:53105600-53110600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr19:53105600-53114800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:53105600-53115000	Weak transcription	Pancreas	Pancrea
41	chr19:53105600-53115400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:53105600-53115400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:53105600-53115400	Weak transcription	Brain Germinal Matrix	brain
44	chr19:53105600-53115600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr19:53105600-53115600	Weak transcription	Adipose Nuclei	Adipose
46	chr19:53105600-53116200	Weak transcription	Brain Anterior Caudate	brain
47	chr19:53105800-53106200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr19:53105800-53106200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr19:53105800-53106200	Enhancers	Dnd41	blood
50	chr19:53105800-53106600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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