Variant report

Variant	esv997576
Chromosome Location	chr19:51776407-51777179
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	MAX	chr19:51776820-51778083	A549	lung:	n/a	n/a
2	SPI1	chr19:51775604-51776432	HL-60	blood:	n/a	chr19:51776218-51776231

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51770888..51773726-chr19:51775825..51777713,2	K562	blood:

Variant related genes	Relation type
ENSG00000268595	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531284181	chr19:51776428-51776429	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563468791	chr19:51776439-51776440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530561321	chr19:51776456-51776457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191712273	chr19:51776464-51776465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560794317	chr19:51776465-51776466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528104675	chr19:51776517-51776518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551222747	chr19:51776668-51776669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536152253	chr19:51776690-51776691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58738030	chr19:51776719-51776720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs59526361	chr19:51776757-51776758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374110193	chr19:51776837-51776838	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571636763	chr19:51776890-51776891	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375683527	chr19:51776902-51776903	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs538945990	chr19:51776910-51776911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183055678	chr19:51776911-51776912	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536401792	chr19:51776935-51776936	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368074532	chr19:51776955-51776956	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555064567	chr19:51777010-51777011	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370148449	chr19:51777062-51777063	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73613991	chr19:51777078-51777079	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368877243	chr19:51777141-51777142	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51770400-51777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:51774600-51785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51776000-51777600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr19:51776000-51781000	Weak transcription	K562	blood
5	chr19:51776400-51776800	Weak transcription	A549	lung
6	chr19:51776800-51777200	Enhancers	A549	lung
7	chr19:51776800-51778000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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