Variant report

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:247337386-247337782	H1-neurons	neurons:	n/a	n/a
2	ZNF384	chr1:247337554-247337879	K562	blood:	n/a	n/a

No data

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No.	Distal block	Cell Line	Cell type
1	chr1:247093657..247095310-chr1:247336196..247337981,2	K562	blood:
2	chr1:247336789..247339124-chr1:247364118..247365695,2	K562	blood:
3	chr1:247093657..247096650-chr1:247335096..247337981,2	K562	blood:

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No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-7	chr1:247336678-247337751	NONHSAT010758

No data

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71566696	chr1:247337740-247337741	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs35803056	chr1:247337741-247337742	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247331800-247347400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:247332800-247338800	Weak transcription	K562	blood
3	chr1:247332800-247346400	Weak transcription	Pancreas	Pancrea
4	chr1:247333000-247345800	Weak transcription	Ovary	ovary
5	chr1:247335600-247337800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:247336200-247346200	Weak transcription	Dnd41	blood
7	chr1:247336800-247337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:247337200-247338000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:247337200-247338400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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