Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62854491..62857008-chr1:62859970..62862634,2	K562	blood:

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

rs_ID	r²[population]
rs10399619	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10789110	1.00[ASN][1000 genomes]
rs10889325	1.00[ASN][1000 genomes]
rs10889326	1.00[ASN][1000 genomes]
rs1413821	0.88[ASN][1000 genomes]
rs1473754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123603	0.87[ASN][1000 genomes]
rs2095403	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104448	0.89[ASN][1000 genomes]
rs3861942	1.00[ASN][1000 genomes]
rs4514267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915615	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915616	0.81[AMR][1000 genomes]
rs4915833	0.96[ASN][1000 genomes]
rs4915834	1.00[ASN][1000 genomes]
rs4915837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60459828	0.88[ASN][1000 genomes]
rs6693540	1.00[ASN][1000 genomes]
rs72929746	0.88[ASN][1000 genomes]
rs7512888	1.00[ASN][1000 genomes]
rs7543765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62848000-62855400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:62848000-62871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:62850600-62855400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:62852000-62856600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:62852800-62856400	Weak transcription	Fetal Stomach	stomach
6	chr1:62853600-62856800	Weak transcription	HepG2	liver
7	chr1:62854800-62855200	Enhancers	Hela-S3	cervix
8	chr1:62855000-62856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:62855000-62856600	Enhancers	Placenta	Placenta
10	chr1:62855000-62860200	Weak transcription	Brain Hippocampus Middle	brain

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