Variant report

Variant	rs1916717
Chromosome Location	chr7:118394453-118394454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1357576	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1919915	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1919919	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2204779	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2222496	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2246466	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256842	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2263400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2440896	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590593	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590602	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590645	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590650	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689718	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699700	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699701	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699705	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699706	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699707	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699754	0.84[AMR][1000 genomes]
rs2699755	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699756	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699757	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699759	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699768	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2699769	1.00[EUR][1000 genomes]
rs2699770	1.00[EUR][1000 genomes]
rs6974190	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv889093	chr7:117977091-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv831109	chr7:118300593-118501778	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1916717	SLC23A2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118394400-118394800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:118394400-118395800	Enhancers	HMEC	breast
3	chr7:118394400-118396000	Enhancers	NHEK	skin

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