Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55150702..55153122-chr2:55154482..55158457,3	K562	blood:
2	chr2:55154430..55157005-chr2:55162762..55165481,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1012603	1.00[CEU][hapmap]
rs10496034	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10496040	1.00[CEU][hapmap]
rs11125550	0.82[CHD][hapmap]
rs11683784	0.82[CHD][hapmap]
rs12464877	1.00[ASW][hapmap]
rs17046514	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17046583	0.82[CEU][hapmap]
rs17046643	1.00[CEU][hapmap]
rs17046658	1.00[CEU][hapmap]
rs2028728	1.00[CEU][hapmap]
rs2304687	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2580768	1.00[ASW][hapmap]
rs2580770	1.00[ASW][hapmap]
rs2580771	1.00[ASW][hapmap]
rs2588515	1.00[ASW][hapmap]
rs4233955	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4671991	0.93[CHB][hapmap]
rs4671993	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4671995	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671997	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4672003	1.00[ASW][hapmap]
rs4672011	1.00[CEU][hapmap]
rs4672018	1.00[ASW][hapmap]
rs60553807	0.85[EUR][1000 genomes]
rs61486548	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6734314	1.00[ASW][hapmap]
rs7594699	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55148600-55155600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:55150000-55168400	Weak transcription	Pancreas	Pancrea
3	chr2:55152200-55156400	Enhancers	Fetal Muscle Leg	muscle
4	chr2:55153800-55156000	Enhancers	HSMMtube	muscle
5	chr2:55154200-55156800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:55154200-55166600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:55154400-55157000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:55154400-55157600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:55154400-55168000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:55154600-55155600	Weak transcription	Psoas Muscle	Psoas
11	chr2:55154800-55155800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:55154800-55157800	Weak transcription	Fetal Brain Male	brain
13	chr2:55154800-55167800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:55155000-55155600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:55155000-55156400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:55155000-55157200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:55155400-55156400	Enhancers	Esophagus	oesophagus
18	chr2:55155400-55156400	Enhancers	NHEK	skin

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