Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112204602..112207127-chr7:112213169..112215760,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1234346	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1234348	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1234351	0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1234352	0.85[ASN][1000 genomes]
rs1236840	0.94[ASN][1000 genomes]
rs1796502	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs2079530	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2097672	0.89[ASN][1000 genomes]
rs2188547	0.86[ASN][1000 genomes]
rs2860402	0.89[ASN][1000 genomes]
rs28844	0.85[ASN][1000 genomes]
rs2905278	0.89[ASN][1000 genomes]
rs2905280	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2952678	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2952687	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs2952688	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs3111438	0.94[ASN][1000 genomes]
rs3128399	0.94[ASN][1000 genomes]
rs4473967	0.92[ASN][1000 genomes]
rs4518580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112207400-112216400	Weak transcription	Psoas Muscle	Psoas
2	chr7:112211800-112216800	Enhancers	Fetal Heart	heart
3	chr7:112212400-112216400	Weak transcription	Left Ventricle	heart
4	chr7:112213200-112220000	Weak transcription	Right Ventricle	heart
5	chr7:112214000-112215600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:112214000-112216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:112214000-112221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:112214200-112216400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr7:112214400-112215600	Weak transcription	Stomach Mucosa	stomach
10	chr7:112214600-112216800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:112214600-112217000	Enhancers	Skeletal Muscle Male	skeletal muscle

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