Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8711921..8714570-chr18:8858809..8861022,2	K562	blood:

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

rs_ID	r²[population]
rs12605622	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798696	0.90[ASN][1000 genomes]
rs595612	0.91[AFR][1000 genomes]
rs619665	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs624756	0.93[ASN][1000 genomes]
rs624855	0.93[ASN][1000 genomes]
rs625719	0.85[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs632355	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs642510	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs644181	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs645951	0.85[ASN][1000 genomes]
rs650038	0.82[AFR][1000 genomes]
rs670578	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs673730	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689956	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs690076	0.82[AFR][1000 genomes]
rs690206	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690237	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs690517	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs690570	0.86[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr18:8855400-8860200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr18:8856800-8861000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:8859000-8861200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:8859000-8861800	Enhancers	Placenta	Placenta
5	chr18:8859000-8861800	Enhancers	NHEK	skin
6	chr18:8859000-8862000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:8859000-8862000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr18:8859000-8862200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:8859400-8865000	Weak transcription	K562	blood
10	chr18:8859600-8861200	Weak transcription	HMEC	breast
11	chr18:8860000-8861200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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