Variant report

Variant	rs2973148
Chromosome Location	chr5:152643974-152643975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1381540	0.98[EUR][1000 genomes]
rs1462113	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1462114	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs149095	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs150618	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs159759	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs159972	0.89[EUR][1000 genomes]
rs159973	0.89[EUR][1000 genomes]
rs159978	0.89[EUR][1000 genomes]
rs160066	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs160163	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs160172	0.89[EUR][1000 genomes]
rs172452	0.81[AMR][1000 genomes]
rs2546328	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560231	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2615160	0.81[AMR][1000 genomes]
rs2615161	0.81[AMR][1000 genomes]
rs2615162	0.81[AMR][1000 genomes]
rs2615163	0.81[AMR][1000 genomes]
rs2926287	0.98[EUR][1000 genomes]
rs2926288	0.98[EUR][1000 genomes]
rs2927172	0.98[EUR][1000 genomes]
rs296188	0.88[AMR][1000 genomes]
rs2964817	0.98[EUR][1000 genomes]
rs2973149	0.98[EUR][1000 genomes]
rs300326	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300328	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300331	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs300332	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs300335	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs302738	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs304862	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs304863	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs308270	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs982494	0.98[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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1019051	chr5:152550863-153057896	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868912	chr5:152582002-153095306	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152643200-152647000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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