Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr21:28731436-28731998	SK-N-SH	brain:	n/a	n/a
2	JUND	chr21:28731493-28731981	SK-N-SH	brain:	n/a	n/a
3	EP300	chr21:28731294-28732079	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr21:28731308-28732036	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr21:28731398-28731976	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr21:28731325-28732055	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr21:28731489-28731874	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr21:28731336-28732067	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr21:28731410-28731882	SK-N-SH	brain:	n/a	n/a
10	JUND	chr21:28731372-28732043	SK-N-SH	brain:	n/a	n/a
11	EP300	chr21:28731434-28732019	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr21:28731369-28732013	SK-N-SH	brain:	n/a	n/a
13	EP300	chr21:28731398-28732048	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr21:28731419-28732041	SK-N-SH	brain:	n/a	n/a
15	RXRA	chr21:28731518-28732074	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr21:28731346-28732048	SK-N-SH	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-1	chr21:28731204-28733475	ENSG00000231236.2

Variant related genes	Relation type
ENSG00000236332	TF binding region

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1023381	0.86[YRI][hapmap]
rs11908996	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909025	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910396	1.00[AMR][1000 genomes]
rs11910835	1.00[AMR][1000 genomes]
rs11911965	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16980453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16997563	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16997565	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4306780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58245320	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61137573	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275570	0.83[AFR][1000 genomes]
rs7280599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7281874	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383398	1.00[AMR][1000 genomes]
rs8133836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133867	1.00[AMR][1000 genomes]
rs8133939	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134884	1.00[AMR][1000 genomes]

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	esv1831608	chr21:28659037-28738059	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28730800-28732000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:28730800-28732400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28730800-28732400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28730800-28732400	Enhancers	NHDF-Ad	bronchial
5	chr21:28731200-28732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:28731400-28732200	Enhancers	Osteobl	bone
7	chr21:28731600-28732000	Enhancers	NHLF	lung
8	chr21:28731600-28732400	Enhancers	Colon Smooth Muscle	Colon

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