Variant report

Variant	rs2434320
Chromosome Location	chr5:79311414-79311415
allele	G/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: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10474605	0.91[EUR][1000 genomes]
rs1438735	0.90[EUR][1000 genomes]
rs1438736	0.86[EUR][1000 genomes]
rs1438737	0.91[EUR][1000 genomes]
rs166270	0.91[EUR][1000 genomes]
rs2059794	0.93[EUR][1000 genomes]
rs2118731	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241825	0.91[EUR][1000 genomes]
rs2247450	0.85[ASN][1000 genomes]
rs2249687	0.91[EUR][1000 genomes]
rs2249794	0.91[EUR][1000 genomes]
rs2434277	0.91[EUR][1000 genomes]
rs2434278	0.90[EUR][1000 genomes]
rs2434299	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2434301	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2434302	0.87[EUR][1000 genomes]
rs2434303	0.87[EUR][1000 genomes]
rs2434304	0.87[EUR][1000 genomes]
rs2434312	0.85[EUR][1000 genomes]
rs2438644	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2438645	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2438649	0.91[EUR][1000 genomes]
rs2451932	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256442	0.91[EUR][1000 genomes]
rs256443	0.82[EUR][1000 genomes]
rs256445	0.90[EUR][1000 genomes]
rs2913544	0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2918422	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs364988	0.91[EUR][1000 genomes]
rs368287	0.91[EUR][1000 genomes]
rs368936	0.91[EUR][1000 genomes]
rs380747	0.91[EUR][1000 genomes]
rs382746	0.91[EUR][1000 genomes]
rs384941	0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs394947	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs397601	0.90[EUR][1000 genomes]
rs404375	0.90[EUR][1000 genomes]
rs405112	0.91[EUR][1000 genomes]
rs407314	0.91[EUR][1000 genomes]
rs411240	0.90[EUR][1000 genomes]
rs411943	0.91[EUR][1000 genomes]
rs412379	0.91[EUR][1000 genomes]
rs426623	0.91[EUR][1000 genomes]
rs428279	0.91[EUR][1000 genomes]
rs432267	0.91[EUR][1000 genomes]
rs6861685	0.88[EUR][1000 genomes]
rs689879	0.91[EUR][1000 genomes]
rs690284	0.91[EUR][1000 genomes]
rs690325	0.89[EUR][1000 genomes]
rs692979	0.91[EUR][1000 genomes]
rs693270	0.91[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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79288200-79311800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:79292000-79315600	Weak transcription	HSMMtube	muscle
3	chr5:79306600-79317000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:79306800-79313400	Weak transcription	Left Ventricle	heart
5	chr5:79310400-79312000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:79311200-79312000	Enhancers	Brain Anterior Caudate	brain
7	chr5:79311400-79311600	Enhancers	Right Ventricle	heart
8	chr5:79311400-79311800	Strong transcription	Aorta	Aorta
9	chr5:79311400-79312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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