Variant report

Variant	rs251548
Chromosome Location	chr5:15133939-15133940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15133125..15135967-chr5:15158581..15161048,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1446038	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1446039	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17521454	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1910081	0.91[ASN][1000 genomes]
rs1910082	0.91[ASN][1000 genomes]
rs1948774	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1948775	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1948776	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2134255	0.91[ASN][1000 genomes]
rs2173979	0.91[ASN][1000 genomes]
rs251546	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251550	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251551	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2592002	0.87[ASN][1000 genomes]
rs2592003	0.91[ASN][1000 genomes]
rs2592004	0.91[ASN][1000 genomes]
rs2652746	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2652748	0.91[ASN][1000 genomes]
rs301081	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs301082	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs301083	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55883840	0.87[ASN][1000 genomes]
rs56654855	0.92[ASN][1000 genomes]
rs6878755	0.92[ASN][1000 genomes]
rs7709939	0.90[ASN][1000 genomes]
rs7713464	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7727486	0.90[ASN][1000 genomes]
rs7730839	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7731437	0.90[ASN][1000 genomes]
rs7733379	0.92[ASN][1000 genomes]
rs7733766	0.89[ASN][1000 genomes]
rs7734386	0.89[ASN][1000 genomes]
rs856749	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs865059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15132800-15134000	Enhancers	Fetal Muscle Leg	muscle
2	chr5:15132800-15134400	Enhancers	Fetal Heart	heart
3	chr5:15133000-15134200	Enhancers	Fetal Lung	lung
4	chr5:15133200-15140000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:15133600-15134200	Weak transcription	Right Atrium	heart

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