Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:196462702..196464719-chr1:196478444..196481194,2	K562	blood:
2	chr1:196458697..196461420-chr1:196463118..196465418,4	K562	blood:
3	chr1:196462288..196467297-chr1:196468697..196474104,7	K562	blood:
4	chr1:196461764..196464743-chr1:196621639..196623886,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10754189	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10922076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339952	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339956	1.00[MEX][hapmap]
rs1361402	1.00[MEX][hapmap]
rs1416964	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1416965	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1538688	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839769	1.00[MEX][hapmap]
rs16840189	1.00[MEX][hapmap]
rs2335904	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs3928858	1.00[MEX][hapmap]
rs4290012	1.00[MEX][hapmap]
rs4607811	1.00[MEX][hapmap]
rs4658037	1.00[MEX][hapmap];0.88[MKK][hapmap]
rs6428342	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428343	1.00[MEX][hapmap]
rs6692565	1.00[MEX][hapmap];0.88[MKK][hapmap]
rs7527233	1.00[MEX][hapmap]
rs7541165	0.83[AFR][1000 genomes]
rs946754	1.00[MEX][hapmap]
rs9782933	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	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	chr1:196436400-196485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:196437400-196467800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:196447800-196468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:196451400-196467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:196452800-196471200	Weak transcription	Liver	Liver
6	chr1:196454400-196467400	Weak transcription	Ovary	ovary
7	chr1:196462600-196465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:196463200-196466400	Active TSS	K562	blood

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