Variant report

Variant	rs7378518
Chromosome Location	chr5:75327294-75327295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75317317..75319096-chr5:75327045..75329051,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10036649	0.80[AMR][1000 genomes]
rs10066781	0.80[AMR][1000 genomes]
rs13162056	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13174796	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1393205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423103	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1423104	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1501905	0.89[JPT][hapmap];0.80[YRI][hapmap]
rs1553310	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs183767	0.88[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs187285	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs1910051	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254153	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2547455	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2547456	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs258612	0.95[EUR][1000 genomes]
rs258613	0.82[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs258614	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs258621	0.85[CEU][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap]
rs2731732	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2731733	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2731735	0.82[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs28620	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28621	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2937705	0.88[YRI][hapmap]
rs30191	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs30192	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs30196	0.96[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs30197	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs30198	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs30199	0.86[EUR][1000 genomes]
rs30202	0.90[EUR][1000 genomes]
rs30204	0.86[EUR][1000 genomes]
rs30205	0.86[EUR][1000 genomes]
rs30206	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs30249	0.81[JPT][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes]
rs4074651	0.80[AMR][1000 genomes]
rs7443455	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7443586	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs993914	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7378518	CTC-235G5.3	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75327000-75327400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:75327000-75327400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:75327000-75327400	Enhancers	Pancreas	Pancrea

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