Variant report

Variant	esv1578605
Chromosome Location	chr1:247348803-247348805
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	POLR2A	chr1:247348411-247348865	K562	blood:	n/a	n/a
2	POLR2A	chr1:247347460-247348945	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:247348387-247348814	K562	blood:	n/a	n/a
4	POLR2A	chr1:247347608-247349643	K562	blood:	n/a	n/a
5	POLR2A	chr1:247347504-247348838	HL-60	blood:	n/a	n/a
6	POLR2A	chr1:247347654-247348919	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247348019..247350851-chr1:247351523..247353130,2	K562	blood:

Variant related genes	Relation type
ENSG00000215795	TF binding region
ENSG00000259865	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 30 )

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	rs200465759	chr1:247348804-247348805	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247346000-247350600	ZNF genes & repeats	Liver	Liver
2	chr1:247346000-247370200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:247346000-247371800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr1:247346800-247349600	ZNF genes & repeats	A549	lung
5	chr1:247347400-247349000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:247347400-247349000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:247347400-247362000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:247347800-247349600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:247348200-247349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:247348200-247350000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:247348400-247349000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:247348400-247351800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:247348400-247353200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:247348600-247349800	Enhancers	Dnd41	blood
15	chr1:247348600-247351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:247348800-247349400	Enhancers	Fetal Kidney	kidney
17	chr1:247348800-247349600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:247348800-247351800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:247348800-247351800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:247348800-247351800	Weak transcription	Pancreas	Pancrea
21	chr1:247348800-247353000	Weak transcription	HSMM	muscle
22	chr1:247348800-247353200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:247348800-247353600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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