Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:28744334-28745001	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr21:28743585-28745082	SK-N-SH	brain:	n/a	chr21:28743806-28743813 chr21:28744411-28744421 chr21:28743650-28743671 chr21:28744350-28744360 chr21:28744100-28744121 chr21:28744408-28744424 chr21:28743806-28743813 chr21:28743799-28743820 chr21:28744483-28744492 chr21:28743804-28743813 chr21:28743806-28743813 chr21:28744483-28744490 chr21:28744107-28744116
3	GATA3	chr21:28743847-28745083	SK-N-SH	brain:	n/a	chr21:28744411-28744421 chr21:28744350-28744360 chr21:28744100-28744121 chr21:28744408-28744424 chr21:28744483-28744492 chr21:28744483-28744490 chr21:28744107-28744116

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28743113..28745036-chr21:28748011..28750615,2	K562	blood:

Variant related genes	Relation type
EIF4A1P1	TF binding region

rSNPs within LD-proxies of this variant (count:3)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1061112	chr21:28738028-28775601	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28741200-28745600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr21:28741800-28745200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:28742200-28763600	Weak transcription	Left Ventricle	heart
4	chr21:28742400-28745200	Enhancers	Fetal Heart	heart
5	chr21:28742400-28745800	Enhancers	Fetal Lung	lung
6	chr21:28742600-28745600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr21:28742600-28745600	Enhancers	HSMMtube	muscle
8	chr21:28742800-28745600	Enhancers	HSMM	muscle
9	chr21:28743200-28745200	Weak transcription	Placenta	Placenta
10	chr21:28743200-28745200	Weak transcription	Ovary	ovary
11	chr21:28743400-28745200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:28743400-28745400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:28743600-28745000	Enhancers	Osteobl	bone
14	chr21:28743600-28745200	Weak transcription	Fetal Stomach	stomach
15	chr21:28744000-28745400	Enhancers	NH-A	brain
16	chr21:28744400-28745200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr21:28744400-28745200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr21:28744400-28745800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:28744600-28745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:28744600-28745000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:28744800-28745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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