Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152297812..152299892-chr1:152301033..152302777,2	MCF-7	breast:
2	chr1:152297727..152299355-chr1:152302860..152305582,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10749668	1.00[MEX][hapmap]
rs12075239	1.00[ASN][1000 genomes]
rs1337343	1.00[MEX][hapmap]
rs1390489	1.00[MEX][hapmap]
rs1858481	0.94[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes]
rs2036101	0.88[ASW][hapmap]
rs3120646	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3120647	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3120648	0.81[AMR][1000 genomes]
rs3120649	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3120655	0.91[AMR][1000 genomes]
rs3120656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3120657	0.81[AMR][1000 genomes]
rs3120658	0.81[AMR][1000 genomes]
rs3126064	0.81[AMR][1000 genomes]
rs3126065	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3126082	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3126087	0.94[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes]
rs3126090	0.81[MKK][hapmap];0.84[AMR][1000 genomes]
rs3126093	0.84[AMR][1000 genomes]
rs3134871	0.94[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes]
rs3134873	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4361988	1.00[ASN][1000 genomes]
rs6587655	0.88[ASW][hapmap]
rs6695861	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv998298	chr1:152288685-152319877	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152286600-152322200	Weak transcription	Ovary	ovary
2	chr1:152297800-152300000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:152298000-152301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:152298200-152301000	Weak transcription	HMEC	breast
5	chr1:152298200-152301200	Weak transcription	NHEK	skin
6	chr1:152298200-152301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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