Variant report

Variant	rs10472048
Chromosome Location	chr5:57631468-57631469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57631449..57633354-chr5:57753923..57756596,2	MCF-7	breast:
2	chr5:57626348..57628340-chr5:57631226..57633135,2	MCF-7	breast:
3	chr5:57626809..57628969-chr5:57631337..57632977,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10035488	0.81[EUR][1000 genomes]
rs10040280	0.80[EUR][1000 genomes]
rs10070290	0.81[EUR][1000 genomes]
rs10471450	0.80[EUR][1000 genomes]
rs10472049	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10472054	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10472060	0.81[EUR][1000 genomes]
rs12188948	0.81[EUR][1000 genomes]
rs13328216	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1428376	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1508904	0.80[EUR][1000 genomes]
rs17765151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17765997	0.80[EUR][1000 genomes]
rs1848512	0.82[EUR][1000 genomes]
rs2021394	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2021395	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2047751	0.82[EUR][1000 genomes]
rs28459538	0.81[EUR][1000 genomes]
rs3846534	0.81[EUR][1000 genomes]
rs56242962	0.80[EUR][1000 genomes]
rs59497655	0.96[EUR][1000 genomes]
rs59595416	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60482268	0.82[EUR][1000 genomes]
rs6450473	0.96[EUR][1000 genomes]
rs72755777	0.88[AFR][1000 genomes]
rs72755778	0.88[AFR][1000 genomes]
rs72755779	0.88[AFR][1000 genomes]
rs72755784	0.92[AFR][1000 genomes]
rs72755786	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72755793	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72755795	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72758116	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72758120	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72758121	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7717376	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7722936	0.92[EUR][1000 genomes]
rs9292159	0.96[EUR][1000 genomes]
rs9292160	0.82[EUR][1000 genomes]
rs984147	0.85[AMR][1000 genomes];0.82[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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57627200-57631600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57627200-57634000	Weak transcription	Aorta	Aorta
3	chr5:57630400-57634600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:57631200-57631600	Enhancers	A549	lung

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