Variant report

Variant	rs4521498
Chromosome Location	chr5:178062777-178062778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178053909..178055898-chr5:178062249..178064358,2	MCF-7	breast:
2	chr5:178056861..178059158-chr5:178059957..178062888,3	MCF-7	breast:
3	chr5:178052435..178056379-chr5:178060810..178069102,10	MCF-7	breast:
4	chr5:178051700..178056905-chr5:178058361..178063297,6	K562	blood:

Variant related genes	Relation type
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10035557	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10051137	0.91[ASN][1000 genomes]
rs10061455	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10061883	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10064009	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10065419	0.90[ASN][1000 genomes]
rs10070794	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10073925	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10479501	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11740396	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11742564	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744815	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748909	0.91[ASN][1000 genomes]
rs11953546	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12654185	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12654187	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12719855	0.90[ASN][1000 genomes]
rs13161074	0.89[ASN][1000 genomes]
rs13187977	0.88[ASN][1000 genomes]
rs13360296	0.95[ASN][1000 genomes]
rs1472457	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1967419	0.92[ASN][1000 genomes]
rs2335442	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs262021	0.91[ASN][1000 genomes]
rs262028	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262036	0.91[ASN][1000 genomes]
rs388749	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073633	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4077796	0.95[ASN][1000 genomes]
rs4079109	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4079111	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4079112	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4301240	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4413550	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4418123	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4437394	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4976798	0.91[ASN][1000 genomes]
rs60509476	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6600942	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6866336	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6866952	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869889	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6871074	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6874126	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6877022	0.85[ASN][1000 genomes]
rs6881073	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs721142	0.91[ASN][1000 genomes]
rs721143	0.91[ASN][1000 genomes]
rs73353860	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73353883	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs752043	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7707891	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7715291	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7720708	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7736565	0.91[ASN][1000 genomes]
rs776153	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178059600-178064000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:178061600-178063200	Enhancers	HMEC	breast
3	chr5:178061600-178063400	Enhancers	Placenta	Placenta
4	chr5:178062000-178062800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:178062200-178062800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:178062200-178062800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:178062200-178062800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:178062200-178063400	Enhancers	NHEK	skin
9	chr5:178062600-178064400	Weak transcription	HepG2	liver

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