Variant report

Variant	esv1496468
Chromosome Location	chr19:21752408-21752409
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	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
2	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
3	POLR2A	chr19:21751548-21752730	PBDE	blood:	n/a	n/a
4	POLR2A	chr19:21751706-21752653	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:21751812-21752423	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:21751702-21752696	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 38 )

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	rs73025894	chr19:21752408-21752409	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:21750200-21752600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:21750400-21752800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:21750400-21752800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:21750400-21752800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr19:21750400-21752800	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:21750400-21752800	Active TSS	Right Ventricle	heart
8	chr19:21750400-21753200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:21750600-21752800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:21750600-21752800	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:21750800-21752800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:21750800-21752800	Active TSS	Primary T cells from cord blood	blood
13	chr19:21750800-21752800	Active TSS	Adipose Nuclei	Adipose
14	chr19:21750800-21752800	Active TSS	Fetal Lung	lung
15	chr19:21750800-21752800	Active TSS	Thymus	Thymus
16	chr19:21750800-21753200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:21751000-21752800	Active TSS	Brain Germinal Matrix	brain
18	chr19:21751000-21752800	Active TSS	Fetal Kidney	kidney
19	chr19:21751200-21752800	Active TSS	Fetal Intestine Small	intestine
20	chr19:21751200-21752800	Active TSS	Fetal Stomach	stomach
21	chr19:21751200-21752800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:21751200-21753000	Active TSS	Stomach Smooth Muscle	stomach
23	chr19:21751400-21752600	Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr19:21751400-21752600	Active TSS	Primary hematopoietic stem cells	blood
25	chr19:21751400-21752600	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr19:21751400-21752600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr19:21751400-21752800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr19:21751400-21752800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:21751400-21752800	ZNF genes & repeats	Fetal Brain Female	brain
30	chr19:21751400-21752800	Active TSS	Fetal Intestine Large	intestine
31	chr19:21751400-21752800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:21751400-21752800	Active TSS	Fetal Muscle Trunk	muscle
33	chr19:21751400-21752800	Active TSS	HSMMtube	muscle
34	chr19:21751400-21752800	Active TSS	NHLF	lung
35	chr19:21751600-21752600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:21751600-21752600	Active TSS	Primary B cells from cord blood	blood
37	chr19:21751600-21752600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:21751600-21752600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:21751600-21752600	ZNF genes & repeats	Liver	Liver
40	chr19:21751600-21752600	Active TSS	Colon Smooth Muscle	Colon
41	chr19:21751600-21752600	ZNF genes & repeats	Placenta	Placenta
42	chr19:21751600-21752600	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr19:21751600-21752800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr19:21751600-21752800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:21751600-21752800	Active TSS	Brain Hippocampus Middle	brain
46	chr19:21751600-21752800	Active TSS	Colonic Mucosa	Colon
47	chr19:21751600-21752800	Active TSS	Ovary	ovary
48	chr19:21751600-21752800	Active TSS	Psoas Muscle	Psoas
49	chr19:21751600-21752800	Active TSS	HSMM	muscle
50	chr19:21751600-21752800	Active TSS	Osteobl	bone

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