Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180739733..180743864-chr1:180743918..180747985,4	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12072238	1.00[EUR][1000 genomes]
rs55846815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55993187	1.00[EUR][1000 genomes]
rs56150326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56248351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57076921	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57611740	1.00[AMR][1000 genomes]
rs58167853	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58263443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291780	1.00[EUR][1000 genomes]
rs59994037	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60155065	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6675116	1.00[EUR][1000 genomes]
rs73047669	1.00[EUR][1000 genomes]
rs74132998	1.00[EUR][1000 genomes]
rs74133000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74133646	1.00[EUR][1000 genomes]
rs74133647	1.00[EUR][1000 genomes]
rs74133648	1.00[EUR][1000 genomes]
rs74135803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135816	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74135834	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74135835	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74135840	0.93[AFR][1000 genomes];1.00[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	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv3777	chr1:180741213-180780313	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180713400-180742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:180715400-180747600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
5	chr1:180731800-180742400	Weak transcription	NHLF	lung
6	chr1:180734800-180742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:180738000-180751200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:180740200-180751000	Weak transcription	Fetal Brain Female	brain
9	chr1:180740200-180753000	Weak transcription	Small Intestine	intestine
10	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
11	chr1:180740800-180742200	Weak transcription	HSMM	muscle
12	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood

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