Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81479552..81481692-chr14:81684705..81687037,3	K562	blood:
2	chr14:81476596..81478510-chr14:81478665..81481342,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10149689	0.81[CHD][hapmap]
rs11159481	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050077	0.81[CHD][hapmap]
rs12050078	0.82[ASW][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs12050350	0.81[JPT][hapmap]
rs12437005	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12896769	0.82[ASN][1000 genomes]
rs17545310	0.81[ASN][1000 genomes]
rs1990597	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2024427	0.87[JPT][hapmap]
rs2110696	0.87[JPT][hapmap]
rs2195103	0.81[CHD][hapmap]
rs2217177	0.81[CHD][hapmap]
rs2268457	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2268458	0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2268460	0.84[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2284720	0.82[ASW][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap]
rs2284722	0.80[CHD][hapmap];0.87[JPT][hapmap]
rs3783951	0.81[JPT][hapmap]
rs4903957	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs4903958	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs5002906	0.93[JPT][hapmap]
rs55945219	0.82[AFR][1000 genomes]
rs726020	0.81[JPT][hapmap]
rs72689904	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72695026	0.91[AMR][1000 genomes]
rs917985	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs929630	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1052999	chr14:81468860-81599074	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv542144	chr14:81468860-81599074	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2300521	ANGEL1	cis	parietal	SCAN
rs2300521	DIO2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
2	chr14:81468000-81486600	Weak transcription	Thymus	Thymus
3	chr14:81478000-81482600	Weak transcription	Dnd41	blood

Quick Search: