Variant report

Variant	rs1718943
Chromosome Location	chr7:112374860-112374861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1227156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227160	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227161	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227165	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227166	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227169	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227170	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227175	0.81[AFR][1000 genomes]
rs1227179	0.82[AFR][1000 genomes]
rs1227180	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227184	0.81[AFR][1000 genomes]
rs1227185	0.81[AFR][1000 genomes]
rs1227186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227188	0.84[AFR][1000 genomes]
rs1227189	0.87[AFR][1000 genomes]
rs1227191	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227193	0.81[AFR][1000 genomes]
rs1234894	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1237908	1.00[AMR][1000 genomes]
rs1375856	1.00[AMR][1000 genomes]
rs1449950	1.00[AMR][1000 genomes]
rs1522630	1.00[AMR][1000 genomes]
rs1620709	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718953	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718962	1.00[AMR][1000 genomes]
rs1718968	0.81[AFR][1000 genomes]
rs1796496	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1796499	0.81[AFR][1000 genomes]
rs1796513	0.88[YRI][hapmap]
rs1796515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2103040	1.00[AMR][1000 genomes]
rs2197953	1.00[AMR][1000 genomes]
rs2396584	1.00[AMR][1000 genomes]
rs2396585	1.00[AMR][1000 genomes]
rs2687263	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2687265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2687268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2687271	1.00[AMR][1000 genomes]
rs2708294	0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2894660	1.00[AMR][1000 genomes]
rs3095041	1.00[AMR][1000 genomes]
rs501621	1.00[AMR][1000 genomes]
rs551461	1.00[AMR][1000 genomes]
rs59930732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61390562	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637075	1.00[AMR][1000 genomes]
rs6466425	1.00[AMR][1000 genomes]
rs7776679	1.00[AMR][1000 genomes]
rs7790704	1.00[AMR][1000 genomes]
rs7790946	1.00[AMR][1000 genomes]
rs7799048	1.00[AMR][1000 genomes]
rs821784	1.00[AMR][1000 genomes]
rs821786	1.00[AMR][1000 genomes]
rs821788	1.00[AMR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv528753	chr7:112373996-112378203	Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112364600-112388400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:112374800-112384600	Weak transcription	Fetal Heart	heart

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