Variant report

Variant	esv2547515
Chromosome Location	chr19:53095827-53095832
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	CTCF	chr19:53095760-53095910	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr19:53095680-53095830	HPAF	blood vessel:	n/a	chr19:53095743-53095752
3	CTCF	chr19:53095720-53095870	HCPEpiC	choroid plexus:	n/a	chr19:53095743-53095752
4	CTCF	chr19:53095680-53095830	Hela-S3	cervix:	n/a	chr19:53095743-53095752
5	CTCF	chr19:53095700-53095850	HCPEpiC	choroid plexus:	n/a	chr19:53095743-53095752
6	CTCF	chr19:53095700-53095850	GM12878	blood:	n/a	chr19:53095743-53095752
7	CTCF	chr19:53095688-53095839	H1-hESC	embryonic stem cell:	n/a	chr19:53095743-53095752
8	CTCF	chr19:53095700-53095850	AoAF	blood vessel:	n/a	chr19:53095743-53095752
9	CTCF	chr19:53095680-53095830	GM12868	blood:	n/a	chr19:53095743-53095752
10	CTCF	chr19:53095700-53095850	GM12864	blood:	n/a	chr19:53095743-53095752
11	CTCF	chr19:53095590-53095854	H1-hESC	embryonic stem cell:	n/a	chr19:53095743-53095752
12	CTCF	chr19:53095720-53095870	HCT-116	colon:	n/a	chr19:53095743-53095752
13	CTCF	chr19:53095700-53095850	HPAF	blood vessel:	n/a	chr19:53095743-53095752
14	CTCF	chr19:53095720-53095870	GM12872	blood:	n/a	chr19:53095743-53095752
15	CTCF	chr19:53095680-53095830	GM12874	blood:	n/a	chr19:53095743-53095752
16	CTCF	chr19:53095700-53095850	WI-38	lung:	n/a	chr19:53095743-53095752
17	CTCF	chr19:53095760-53095910	K562	blood:	n/a	n/a
18	CTCF	chr19:53095680-53095830	HMF	breast:	n/a	chr19:53095743-53095752
19	CTCF	chr19:53095720-53095870	HCFaa	heart:	n/a	chr19:53095743-53095752
20	CTCF	chr19:53095720-53095870	NHEK	skin:	n/a	chr19:53095743-53095752
21	RAD21	chr19:53095538-53095937	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ZNF137P	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372893158	chr19:53095827-53095828	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs386810509	chr19:53095829-53095830	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs60763836	chr19:53095831-53095832	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53074600-53103600	Weak transcription	Fetal Brain Male	brain
2	chr19:53076400-53096000	Strong transcription	Dnd41	blood
3	chr19:53079400-53096000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:53087400-53103600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:53087600-53099000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:53087600-53099000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr19:53087600-53099000	Weak transcription	NHDF-Ad	bronchial
8	chr19:53087600-53099400	Weak transcription	Brain Angular Gyrus	brain
9	chr19:53087600-53103600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:53087800-53098800	Weak transcription	HSMMtube	muscle
11	chr19:53088200-53099000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:53088400-53097600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:53088400-53099000	Weak transcription	HUVEC	blood vessel
14	chr19:53088400-53103600	Weak transcription	Psoas Muscle	Psoas
15	chr19:53088600-53096000	Strong transcription	Fetal Stomach	stomach
16	chr19:53088600-53099200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:53088800-53098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:53088800-53099000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:53088800-53099000	Weak transcription	Left Ventricle	heart
20	chr19:53088800-53099000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:53088800-53103600	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:53088800-53103600	Weak transcription	Right Ventricle	heart
23	chr19:53088800-53103800	Weak transcription	Right Atrium	heart
24	chr19:53089000-53103800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr19:53089200-53099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:53089200-53099000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:53089400-53096400	Strong transcription	Placenta	Placenta
28	chr19:53089400-53099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:53089800-53100000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:53090200-53097600	Weak transcription	Stomach Mucosa	stomach
31	chr19:53090200-53099000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:53090800-53096000	Strong transcription	Fetal Muscle Leg	muscle
33	chr19:53090800-53099000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:53090800-53100000	Weak transcription	Fetal Brain Female	brain
35	chr19:53091000-53104200	Weak transcription	Spleen	Spleen
36	chr19:53091200-53099200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:53091200-53099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:53091600-53099400	Weak transcription	HSMM	muscle
39	chr19:53091800-53096200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:53092000-53096000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:53092200-53103600	Weak transcription	Gastric	stomach
42	chr19:53093000-53096000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:53093000-53096000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:53093200-53096000	Strong transcription	Ovary	ovary
45	chr19:53093200-53097600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:53093400-53096000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:53093400-53096000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:53093400-53096200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr19:53093600-53096000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:53093600-53096000	Strong transcription	Fetal Lung	lung

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