Variant report

Variant	rs322760
Chromosome Location	chr7:127773388-127773389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127766104..127769053-chr7:127772812..127775093,2	MCF-7	breast:
2	chr7:127773375..127775632-chr7:127776520..127778934,2	K562	blood:
3	chr7:127771531..127774233-chr7:127890861..127893164,2	K562	blood:
4	chr7:127771299..127774021-chr7:127790883..127793192,2	K562	blood:
5	chr7:127770664..127774572-chr7:127774612..127778986,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs178733	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184430	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322730	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs322732	0.85[ASN][1000 genomes]
rs322738	0.94[ASN][1000 genomes]
rs322749	0.84[ASN][1000 genomes]
rs322751	0.84[ASN][1000 genomes]
rs322752	0.91[ASN][1000 genomes]
rs322755	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322756	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322762	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322765	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322766	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322768	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322770	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322771	0.97[ASN][1000 genomes]
rs322775	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322778	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322780	0.88[ASN][1000 genomes]
rs322782	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs322783	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322784	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322785	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322786	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322787	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322790	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322791	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322806	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322807	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322808	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322809	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322811	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322812	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322818	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[ASN][1000 genomes]
rs5028619	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6960004	0.94[CHB][hapmap];0.96[CHD][hapmap];0.83[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs322760	GPR37	cis	cerebellum	SCAN
rs322760	EEF2K	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127770600-127773400	Enhancers	HUVEC	blood vessel

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