Variant report

Variant	esv1136268
Chromosome Location	chr19:52132029-52132031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52123766..52126647-chr19:52131236..52133976,2	K562	blood:
2	chr19:52127522..52129415-chr19:52131096..52132777,2	K562	blood:

Variant related genes	Relation type
ENSG00000244071	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	rs558766530	chr19:52132030-52132031	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52125000-52133600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:52127800-52132400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
3	chr19:52128800-52133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:52129800-52132400	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:52129800-52132400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:52130200-52132400	Weak transcription	Right Atrium	heart
7	chr19:52130400-52132400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
8	chr19:52130400-52132600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:52130800-52132400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:52130800-52133200	Weak transcription	Gastric	stomach
11	chr19:52131000-52133800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:52131000-52134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:52131400-52132200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr19:52131400-52132200	ZNF genes & repeats	Spleen	Spleen
15	chr19:52131400-52132400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:52131400-52132600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
17	chr19:52131600-52132200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:52131600-52132200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
19	chr19:52131800-52132200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:52131800-52132200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:52131800-52132200	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr19:52131800-52132200	Bivalent/Poised TSS	Fetal Lung	lung
23	chr19:52131800-52132200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:52131800-52132200	Enhancers	GM12878-XiMat	blood
25	chr19:52132000-52132200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr19:52132000-52132200	Enhancers	Pancreas	Pancrea

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