Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209493055..209495398-chr1:209509454..209511387,2	K562	blood:
2	chr1:209486791..209489026-chr1:209492527..209494876,2	K562	blood:

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

rs_ID	r²[population]
rs1006316	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1006317	0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10494920	0.89[ASN][1000 genomes]
rs11811038	0.81[JPT][hapmap]
rs12135550	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs1354853	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs1395753	0.98[ASN][1000 genomes]
rs1507331	0.86[ASN][1000 genomes]
rs1507336	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs17014320	0.87[ASN][1000 genomes]
rs17014323	0.87[ASN][1000 genomes]
rs17014337	0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17014370	0.92[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs17014375	0.92[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs17014395	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs17014396	0.92[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1857967	0.84[CHB][hapmap]
rs4844473	0.81[ASN][1000 genomes]
rs4844807	0.87[ASN][1000 genomes]
rs4844809	0.87[ASN][1000 genomes]
rs4844815	0.84[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4844821	0.81[ASN][1000 genomes]
rs55684110	0.84[ASN][1000 genomes]
rs58017268	0.84[ASN][1000 genomes]
rs60534728	0.81[ASN][1000 genomes]
rs6681466	0.90[JPT][hapmap]
rs74155473	0.82[ASN][1000 genomes]
rs7548184	0.86[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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:209492800-209497200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:209493000-209498600	Weak transcription	Fetal Brain Male	brain
3	chr1:209493200-209496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:209493200-209500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:209493400-209496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:209493400-209496600	Weak transcription	HMEC	breast
7	chr1:209493400-209496600	Weak transcription	NHEK	skin
8	chr1:209493400-209496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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