Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:39195950..39197614-chr6:39288788..39290950,2	K562	blood:

Variant related genes	Relation type
ENSG00000164626	Chromatin interaction

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

rs_ID	r²[population]
rs11751171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751173	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752800	1.00[CHB][hapmap]
rs11753468	0.86[EUR][1000 genomes]
rs11755807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755830	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755884	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12194060	1.00[CHB][hapmap]
rs1546911	1.00[CHB][hapmap]
rs16891904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892032	1.00[JPT][hapmap]
rs2758911	1.00[JPT][hapmap]
rs28520677	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61750316	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61751240	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462521	1.00[JPT][hapmap]
rs9471056	1.00[JPT][hapmap]
rs9471115	1.00[CHB][hapmap]

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	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv830645	chr6:39227601-39408310	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv533806	chr6:39270073-39397337	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39282800-39291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:39283000-39290400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:39283000-39295400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:39283400-39291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:39285600-39307800	Weak transcription	Esophagus	oesophagus
6	chr6:39286400-39290800	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:39287400-39291000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:39287600-39289200	Enhancers	Fetal Thymus	thymus
9	chr6:39288000-39289200	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:39288600-39290000	Weak transcription	Lung	lung
11	chr6:39288600-39298000	Weak transcription	Right Atrium	heart
12	chr6:39288800-39289000	Enhancers	Spleen	Spleen

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