Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:205340138-205340312	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr2:205340021-205340593	SK-N-SH	brain:	n/a	n/a
3	EP300	chr2:205340107-205340511	SK-N-SH_RA	brain:	n/a	chr2:205340500-205340507
4	EP300	chr2:205339841-205340984	SK-N-SH	brain:	n/a	chr2:205340062-205340076 chr2:205340500-205340507 chr2:205340819-205340828 chr2:205340058-205340072 chr2:205340063-205340077

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PARD3B-1	chr2:205340079-205340346	XLOC_001815

Variant related genes	Relation type
ENSG00000236634	TF binding region

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10176503	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10191204	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202333	1.00[EUR][1000 genomes]
rs10205316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12468741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12472508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1447487	1.00[EUR][1000 genomes]
rs1447491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1447494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1470544	1.00[EUR][1000 genomes]
rs1545378	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1550910	1.00[AMR][1000 genomes]
rs1550911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16824667	1.00[EUR][1000 genomes]
rs1992844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2053762	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2121681	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2121682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2216958	1.00[EUR][1000 genomes]
rs4522588	1.00[AMR][1000 genomes]
rs55700498	1.00[EUR][1000 genomes]
rs56249032	1.00[EUR][1000 genomes]
rs6709185	1.00[EUR][1000 genomes]
rs7575807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs921164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1012465	chr2:205335630-205349444	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205335000-205341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:205335800-205341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:205336000-205340800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:205337400-205344000	Weak transcription	K562	blood
5	chr2:205337800-205341000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:205338200-205350400	Weak transcription	NHLF	lung
7	chr2:205338400-205340600	Weak transcription	HSMMtube	muscle
8	chr2:205338400-205341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:205339800-205340600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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