Variant report

Variant	rs648326
Chromosome Location	chr13:30227763-30227764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2089945	0.82[AFR][1000 genomes]
rs2137399	0.81[AFR][1000 genomes]
rs2263207	0.99[ASN][1000 genomes]
rs2482085	0.82[AFR][1000 genomes]
rs2669028	0.83[ASN][1000 genomes]
rs2776418	0.83[ASN][1000 genomes]
rs2776965	0.82[AFR][1000 genomes]
rs280905	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs280906	0.93[ASN][1000 genomes]
rs280907	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs280942	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs280943	0.81[ASN][1000 genomes]
rs280944	0.82[ASN][1000 genomes]
rs280945	0.80[ASN][1000 genomes]
rs482876	0.82[ASN][1000 genomes]
rs489679	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497288	0.82[AFR][1000 genomes]
rs506502	0.82[AFR][1000 genomes]
rs517178	0.84[ASN][1000 genomes]
rs524368	1.00[ASN][1000 genomes]
rs529739	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535141	1.00[ASN][1000 genomes]
rs538385	0.99[ASN][1000 genomes]
rs550984	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563630	1.00[ASN][1000 genomes]
rs565279	0.95[ASN][1000 genomes]
rs566736	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs570095	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs571899	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs572976	0.82[AFR][1000 genomes]
rs573054	0.82[AFR][1000 genomes]
rs577487	0.82[AFR][1000 genomes]
rs590377	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs591390	0.82[AFR][1000 genomes]
rs605443	0.84[AFR][1000 genomes]
rs606753	0.82[ASN][1000 genomes]
rs61947189	0.91[ASN][1000 genomes]
rs630273	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs819106	0.82[AFR][1000 genomes]
rs819108	0.81[AFR][1000 genomes]
rs819400	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs819401	0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs819407	0.82[AFR][1000 genomes]
rs9506213	0.93[ASN][1000 genomes]
rs9506214	0.93[ASN][1000 genomes]
rs9506215	0.93[ASN][1000 genomes]
rs9508524	0.86[ASN][1000 genomes]
rs9551713	0.93[ASN][1000 genomes]
rs9551714	1.00[ASN][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	nsv980	chr13:30200197-30236915	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv498808	chr13:30215837-30228124	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs648326	SLC7A1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30222400-30229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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