Variant report

Variant	esv2148291
Chromosome Location	chr10:23480162-23480163
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	CTBP2	chr10:23479936-23482481	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr10:23480130-23480222	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr10:23479864-23482543	NT2-D1	testis:	n/a	n/a
4	SUZ12	chr10:23479777-23482696	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PTF1A	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 37 )

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	rs574543233	chr10:23480162-23480163	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:37)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23479200-23480400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:23479200-23481600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:23479200-23483400	Active TSS	Pancreas	Pancrea
4	chr10:23479400-23480600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr10:23479600-23480800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr10:23479600-23481400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:23479800-23480200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:23479800-23480200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr10:23479800-23480400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr10:23479800-23480800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:23479800-23482600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr10:23480000-23480200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr10:23480000-23480200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr10:23480000-23480200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr10:23480000-23480200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr10:23480000-23480400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr10:23480000-23480400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:23480000-23480600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:23480000-23481000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:23480000-23481600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr10:23480000-23481800	Bivalent Enhancer	Fetal Brain Male	brain

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