Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:247336352-247336802	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:247336561-247336893	A549	lung:	n/a	n/a
3	MAX	chr1:247336553-247337043	K562	blood:	n/a	chr1:247336961-247336971
4	MAX	chr1:247336286-247337178	NB4	blood:	n/a	chr1:247336961-247336971
5	MYC	chr1:247336268-247337107	NB4	blood:	n/a	chr1:247336961-247336971
6	POLR2A	chr1:247336170-247337069	HL-60	blood:	n/a	n/a
7	RUNX3	chr1:247336229-247336647	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247093657..247095310-chr1:247336196..247337981,2	K562	blood:
2	chr1:247093657..247096650-chr1:247335096..247337981,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-7	chr1:247336346-247336681	NONHSAT010757

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	rs5782419	chr1:247336579-247336580	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs201946572	chr1:247336580-247336581	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247327800-247336800	Weak transcription	HSMM	muscle
2	chr1:247331800-247347400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:247332800-247338800	Weak transcription	K562	blood
4	chr1:247332800-247346400	Weak transcription	Pancreas	Pancrea
5	chr1:247333000-247345800	Weak transcription	Ovary	ovary
6	chr1:247335600-247336800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:247335600-247336800	Enhancers	Fetal Thymus	thymus
8	chr1:247335600-247337000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:247335600-247337200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:247335600-247337200	Enhancers	Primary B cells from cord blood	blood
11	chr1:247335600-247337600	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:247335600-247337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:247335600-247337800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:247336000-247336800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:247336000-247336800	Enhancers	Adipose Nuclei	Adipose
16	chr1:247336000-247336800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr1:247336000-247336800	Bivalent Enhancer	HepG2	liver
18	chr1:247336000-247336800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:247336000-247337000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:247336200-247346200	Weak transcription	Dnd41	blood

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