Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:247248390..247250817-chr1:247252718..247255600,2	MCF-7	breast:
2	chr1:247253924..247257124-chr1:247257562..247261761,7	K562	blood:
3	chr1:247252127..247257268-chr1:247258904..247262111,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228982	chromatin interactions

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9700843	chr1:247254779-247254780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4074511	chr1:247254806-247254807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74210558	chr1:247254808-247254809	Weak transcription	Chromatin interactive region	1 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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247251000-247257200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:247252200-247258600	Weak transcription	Brain Germinal Matrix	brain
3	chr1:247252400-247257400	Weak transcription	Fetal Brain Female	brain
4	chr1:247253200-247260400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:247253200-247263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:247253400-247260600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:247253600-247260000	Weak transcription	Right Ventricle	heart
8	chr1:247253600-247260200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:247253600-247263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:247254000-247262800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:247254000-247263600	Weak transcription	Placenta	Placenta
12	chr1:247254200-247259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:247254200-247260200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:247254200-247260200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:247254200-247262000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:247254200-247266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:247254400-247260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:247254400-247260600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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