Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:220343832..220345893-chr1:220477338..220479584,2	K562	blood:
2	chr1:220475375..220478534-chr1:220488140..220490851,3	K562	blood:
3	chr1:220472146..220476352-chr1:220476366..220479931,4	K562	blood:

Variant related genes	Relation type
ENSG00000230318	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863544	0.91[ASN][1000 genomes]
rs11118515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118525	0.91[ASN][1000 genomes]
rs11118526	0.91[ASN][1000 genomes]
rs11118527	0.91[ASN][1000 genomes]
rs11118531	0.91[ASN][1000 genomes]
rs12067541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075594	0.91[ASN][1000 genomes]
rs12076897	0.91[ASN][1000 genomes]
rs12077296	0.91[ASN][1000 genomes]
rs12083681	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12087896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089334	0.91[ASN][1000 genomes]
rs12097735	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12568195	0.91[ASN][1000 genomes]
rs17565835	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs17567955	0.91[ASN][1000 genomes]
rs1912813	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6657633	0.91[ASN][1000 genomes]
rs925445	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9970755	0.91[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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220475000-220481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:220475400-220480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:220475400-220480800	Weak transcription	NHDF-Ad	bronchial
4	chr1:220477600-220480400	Weak transcription	Osteobl	bone

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