Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85664392..85672702-chr1:85677833..85684054,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

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

rs_ID	r²[population]
rs10747317	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782543	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873693	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11161573	0.89[CHB][hapmap]
rs11161585	0.80[CHB][hapmap]
rs11161588	0.80[CHB][hapmap]
rs11161592	0.80[CHB][hapmap]
rs11583827	0.80[CHB][hapmap]
rs11587512	0.90[CHB][hapmap]
rs12093484	0.90[CHB][hapmap]
rs12405767	0.80[CHB][hapmap]
rs1498378	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498379	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498380	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17125445	0.90[CHB][hapmap]
rs4949927	0.80[CHB][hapmap]
rs4949928	0.80[CHB][hapmap]
rs6668948	0.80[CHB][hapmap]
rs6670921	0.90[CHB][hapmap]
rs7554249	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs9432848	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973167	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 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	chr1:85668000-85689000	Weak transcription	Gastric	stomach
2	chr1:85673800-85690400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85681400-85684400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:85681400-85686600	Weak transcription	Stomach Mucosa	stomach
5	chr1:85681400-85690400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85681600-85684600	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:85681800-85684600	Weak transcription	K562	blood
8	chr1:85681800-85685600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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