Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:172895443..172898175-chr2:172947631..172951395,3	MCF-7	breast:
2	chr2:172863810..172866649-chr2:172897170..172900097,2	MCF-7	breast:
3	chr2:172889595..172892508-chr2:172896420..172898140,2	K562	blood:
4	chr2:172814398..172816773-chr2:172897088..172899114,2	MCF-7	breast:
5	chr2:172897019..172899837-chr2:172947846..172950553,2	MCF-7	breast:
6	chr2:172896231..172898804-chr2:172903539..172906403,3	K562	blood:
7	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:

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

rs_ID	r²[population]
rs10167594	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs10171214	0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs10203462	0.81[EUR][1000 genomes]
rs1038564	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10497377	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs10930503	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs12473549	1.00[CEU][hapmap]
rs12616766	0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs12622144	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs13394991	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403822	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs17581610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17615589	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs17615607	0.95[JPT][hapmap]
rs3796058	0.86[JPT][hapmap]
rs59609380	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60491745	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6751078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs705870	0.81[JPT][hapmap]
rs788164	0.86[JPT][hapmap]
rs9973494	0.91[ASN][1000 genomes]
rs9973784	0.91[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	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172878600-172898200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:172887400-172902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:172893600-172902000	Weak transcription	K562	blood
4	chr2:172897000-172902600	Weak transcription	Spleen	Spleen
5	chr2:172897600-172897800	Enhancers	Psoas Muscle	Psoas

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