Variant report

Variant	rs2451940
Chromosome Location	chr5:79311042-79311043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79310339..79313170-chr5:79315617..79318349,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12234104	0.85[ASN][1000 genomes]
rs16877428	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs194375	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2434270	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434272	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2434273	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434274	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434275	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434309	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2434310	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2434311	0.88[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2434313	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2434314	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2434315	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2434316	0.86[ASN][1000 genomes]
rs2434318	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434319	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438604	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2438605	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2438606	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2438607	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2438609	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438610	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438611	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438612	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438613	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438614	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438615	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2438616	0.84[ASN][1000 genomes]
rs2438617	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2438618	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438650	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2438651	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2451933	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256440	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256441	0.90[EUR][1000 genomes]
rs256444	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs256446	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256447	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs256448	0.90[EUR][1000 genomes]
rs256450	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256451	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs366471	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366553	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs385771	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs391521	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs398774	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs401302	0.80[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs423906	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs434409	0.87[EUR][1000 genomes]
rs6874832	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6875852	0.89[ASN][1000 genomes]
rs6878264	0.82[EUR][1000 genomes];0.89[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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79287600-79311400	Weak transcription	Aorta	Aorta
2	chr5:79288200-79311800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:79292000-79315600	Weak transcription	HSMMtube	muscle
4	chr5:79301600-79311200	Weak transcription	Right Ventricle	heart
5	chr5:79305800-79311400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:79306600-79317000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:79306800-79313400	Weak transcription	Left Ventricle	heart
8	chr5:79310400-79312000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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