Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:39720733..39723031-chr14:39734245..39737381,4	K562	blood:
2	chr14:39720805..39723353-chr14:39735805..39738506,2	K562	blood:
3	chr14:39717370..39718891-chr14:39721042..39723991,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483540	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17855896	0.85[EUR][1000 genomes]
rs45469295	1.00[ASN][1000 genomes]
rs55706043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55880223	1.00[ASN][1000 genomes]
rs55918207	1.00[ASN][1000 genomes]
rs55981737	1.00[ASN][1000 genomes]
rs55987939	1.00[ASN][1000 genomes]
rs56032918	1.00[ASN][1000 genomes]
rs56182546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	1.00[ASN][1000 genomes]
rs56276842	1.00[ASN][1000 genomes]
rs56282196	1.00[ASN][1000 genomes]
rs56404404	1.00[ASN][1000 genomes]
rs57248532	1.00[ASN][1000 genomes]
rs6571907	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67970726	1.00[ASN][1000 genomes]
rs7147914	1.00[ASN][1000 genomes]
rs72673328	1.00[ASN][1000 genomes]
rs72673329	1.00[ASN][1000 genomes]
rs72673339	1.00[ASN][1000 genomes]
rs72673346	1.00[ASN][1000 genomes]
rs72673350	1.00[ASN][1000 genomes]
rs72673357	1.00[ASN][1000 genomes]
rs72673359	1.00[ASN][1000 genomes]
rs72673379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673388	1.00[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	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39703600-39735400	Weak transcription	Pancreas	Pancrea
2	chr14:39704400-39734400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:39716800-39721400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:39717200-39721600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:39718600-39728000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:39719400-39721600	Weak transcription	Liver	Liver
7	chr14:39721200-39721400	Enhancers	Fetal Intestine Large	intestine
8	chr14:39721200-39721400	Weak transcription	HepG2	liver
9	chr14:39721200-39721600	Enhancers	Fetal Intestine Small	intestine

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