Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159814166..159816690-chr3:159817105..159819056,2	K562	blood:

Variant related genes	Relation type
ENSG00000184100	Chromatin interaction

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

rs_ID	r²[population]
rs12634498	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1580794	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4680554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680555	0.81[CEU][hapmap]
rs4680556	0.87[CEU][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6441291	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6794509	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6795264	0.86[EUR][1000 genomes]
rs73012068	0.89[AFR][1000 genomes]
rs7624350	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs937478	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9810636	0.86[EUR][1000 genomes]
rs9811184	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9820728	0.86[EUR][1000 genomes]
rs9826517	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9828609	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9835257	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9847609	0.86[EUR][1000 genomes]
rs9847915	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9848879	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9880855	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	esv13734	chr3:159794041-159814966	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv819439	chr3:159800647-159815768	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3358384	chr3:159812458-159816056	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9866988	TXNIP	trans	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159801000-159814600	Weak transcription	Gastric	stomach
2	chr3:159807000-159825000	Weak transcription	Pancreas	Pancrea
3	chr3:159812800-159816400	Weak transcription	HepG2	liver
4	chr3:159813400-159815000	Weak transcription	Esophagus	oesophagus

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