Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53669776..53671843-chr2:53678580..53680158,2	K562	blood:
2	chr2:53649827..53650366-chr2:53669841..53670500,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11125496	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886009	0.80[AMR][1000 genomes]
rs12465172	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477071	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477543	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12999083	0.80[AMR][1000 genomes]
rs13411752	0.83[ASN][1000 genomes]
rs1402899	0.80[AMR][1000 genomes]
rs1521924	0.81[ASN][1000 genomes]
rs1521925	0.81[ASN][1000 genomes]
rs1521927	0.81[ASN][1000 genomes]
rs1521928	0.81[ASN][1000 genomes]
rs1521932	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs1521936	0.91[ASN][1000 genomes]
rs1521947	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1521949	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1521950	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4566397	0.80[AMR][1000 genomes]
rs4672418	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672419	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672420	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66734139	0.80[AMR][1000 genomes]
rs6748128	0.84[CEU][hapmap];0.87[CHB][hapmap]
rs7576429	0.81[ASN][1000 genomes]
rs7588880	0.81[ASN][1000 genomes]
rs909051	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][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	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53665600-53672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:53665800-53672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:53666000-53671400	Weak transcription	Hela-S3	cervix
4	chr2:53667800-53675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:53668800-53670000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:53669000-53670000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:53669000-53670600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:53669200-53670000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:53669400-53670000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:53669400-53670000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:53669600-53670200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:53669600-53679800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:53669800-53670000	Weak transcription	Gastric	stomach

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