Variant report

Variant	rs7415619
Chromosome Location	chr1:192931703-192931704
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	chr1:192924694..192927140-chr1:192929205..192931842,2	K562	blood:
2	chr1:192929487..192932088-chr1:193025767..193027297,2	K562	blood:

Variant related genes	Relation type
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10754036	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10801165	0.81[AMR][1000 genomes]
rs10801170	1.00[GIH][hapmap]
rs10921299	0.85[AMR][1000 genomes]
rs10921300	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11507871	0.83[AMR][1000 genomes]
rs11507872	0.83[AMR][1000 genomes]
rs12117621	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12118267	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12123511	1.00[GIH][hapmap]
rs12124274	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12125252	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12132131	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12132305	1.00[GIH][hapmap]
rs12133193	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12133295	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12138298	0.81[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12143913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1339591	0.95[EUR][1000 genomes]
rs17525308	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17526825	1.00[GIH][hapmap]
rs17592121	1.00[GIH][hapmap]
rs2486496	0.95[EUR][1000 genomes]
rs2887640	1.00[GIH][hapmap]
rs35686688	0.87[EUR][1000 genomes]
rs6680068	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6701258	0.83[AMR][1000 genomes]
rs72738564	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72738565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72738572	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72738574	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72738576	0.81[AMR][1000 genomes]
rs72738577	0.83[AMR][1000 genomes]
rs72738582	0.83[AMR][1000 genomes]
rs842805	0.81[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs842815	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7415619	GLRX2	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192922400-192941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:192931600-192932600	Enhancers	Primary T cells from cord blood	blood
4	chr1:192931600-192932600	Weak transcription	Psoas Muscle	Psoas

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