Variant report

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(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145264141..145265822-chr2:145439958..145442290,2	K562	blood:
2	chr2:145440158..145443072-chr2:145446990..145449135,3	K562	blood:
3	chr2:145438508..145440477-chr2:145442503..145444386,2	K562	blood:
4	chr2:145274672..145276800-chr2:145439979..145441648,2	K562	blood:
5	chr2:145440158..145446045-chr2:145446990..145450479,6	K562	blood:
6	chr2:145428109..145430225-chr2:145438902..145440651,2	K562	blood:
7	chr2:145420530..145423010-chr2:145438909..145441021,2	K562	blood:
8	chr2:145436622..145438184-chr2:145439926..145441504,2	K562	blood:
9	chr2:145440137..145441747-chr2:145541238..145543975,2	K562	blood:

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Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

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Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145423000-145440600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:145436600-145440800	Weak transcription	Fetal Kidney	kidney
3	chr2:145438000-145440600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr2:145438400-145441000	Enhancers	NHEK	skin
5	chr2:145438600-145440600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:145438600-145441000	Enhancers	HMEC	breast
7	chr2:145438800-145452800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:145439400-145442000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:145439600-145440400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:145439600-145440400	Flanking Active TSS	K562	blood
11	chr2:145439600-145440800	Enhancers	Primary B cells from cord blood	blood
12	chr2:145440000-145440800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:145440000-145441200	Enhancers	Fetal Lung	lung
14	chr2:145440000-145441600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:145440000-145441600	Enhancers	Ovary	ovary
16	chr2:145440000-145442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:145440000-145442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:145440200-145440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:145440200-145440800	Enhancers	Brain Angular Gyrus	brain
20	chr2:145440200-145442200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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