Variant report

Variant	rs62427139
Chromosome Location	chr6:144390067-144390068
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr6:144389939-144390229	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144384660..144387560-chr6:144388575..144391098,2	MCF-7	breast:
2	chr6:144389593..144391414-chr6:144406307..144408585,2	K562	blood:
3	chr6:144389183..144392938-chr6:144412724..144417623,6	K562	blood:
4	chr6:144382841..144386965-chr6:144388333..144393468,6	MCF-7	breast:
5	chr6:144387892..144390922-chr6:144392933..144394660,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28384403	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55847642	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55928616	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56282161	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59906266	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62427138	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62427144	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62427148	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62428867	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62428869	0.95[EUR][1000 genomes]
rs6926546	1.00[AMR][1000 genomes];0.98[EUR][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	nsv886738	chr6:144387698-144428387	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144386400-144408800	Weak transcription	Right Ventricle	heart
2	chr6:144388400-144396600	Weak transcription	K562	blood
3	chr6:144388600-144390200	Enhancers	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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