Variant report

Variant	rs979527
Chromosome Location	chr5:119145442-119145443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1125859	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162602	0.82[ASN][1000 genomes]
rs168946	0.85[ASN][1000 genomes]
rs2195325	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2217281	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2404551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs259175	0.85[ASN][1000 genomes]
rs259176	0.85[ASN][1000 genomes]
rs259177	0.85[ASN][1000 genomes]
rs259179	0.84[ASN][1000 genomes]
rs259180	0.85[ASN][1000 genomes]
rs259183	0.82[ASN][1000 genomes]
rs259184	0.84[ASN][1000 genomes]
rs259189	0.85[ASN][1000 genomes]
rs259192	0.82[ASN][1000 genomes]
rs2914034	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2914041	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2914055	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2914056	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973939	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973950	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2973951	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2973952	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2973953	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2973954	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2973955	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv882778	chr5:118972113-119384039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830461	chr5:118995462-119153291	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882779	chr5:119031559-119182542	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv427733	chr5:119037677-119282381	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv830462	chr5:119124989-119262889	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119142000-119148600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119144200-119145800	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr5:119145200-119146000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:119145400-119146000	Enhancers	Gastric	stomach
5	chr5:119145400-119146800	Enhancers	Right Ventricle	heart

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