Variant report

Variant	rs4418123
Chromosome Location	chr5:178073103-178073104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178051814..178054054-chr5:178071532..178073696,2	MCF-7	breast:
2	chr5:177775560..177777498-chr5:178072805..178075321,2	MCF-7	breast:
3	chr5:178063341..178065728-chr5:178071679..178073201,2	MCF-7	breast:
4	chr5:178072351..178074150-chr5:178081295..178082959,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035557	0.87[ASN][1000 genomes]
rs10051137	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10061455	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10061883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065419	0.89[ASN][1000 genomes]
rs10070794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073925	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10479501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740396	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11742564	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11744815	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11748909	0.87[ASN][1000 genomes]
rs11953546	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12654185	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654187	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12719855	0.89[ASN][1000 genomes]
rs13161074	0.86[ASN][1000 genomes]
rs13187977	0.91[ASN][1000 genomes]
rs13360296	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1472457	0.87[ASN][1000 genomes]
rs1967419	0.88[ASN][1000 genomes]
rs2335442	0.87[ASN][1000 genomes]
rs262021	0.87[ASN][1000 genomes]
rs262028	0.87[ASN][1000 genomes]
rs262036	0.87[ASN][1000 genomes]
rs388749	0.88[ASN][1000 genomes]
rs4073633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077796	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4079109	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4079111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4079112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521498	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4976798	0.87[ASN][1000 genomes]
rs60509476	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6600942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6866336	0.87[ASN][1000 genomes]
rs6866952	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6869889	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6871074	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6874126	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6877022	0.81[ASN][1000 genomes]
rs6881073	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs721142	0.87[ASN][1000 genomes]
rs721143	0.87[ASN][1000 genomes]
rs73353860	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73353883	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs752043	0.87[ASN][1000 genomes]
rs7707891	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7715291	0.87[ASN][1000 genomes]
rs7720708	0.87[ASN][1000 genomes]
rs7736565	0.87[ASN][1000 genomes]
rs776153	0.87[ASN][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	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	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
3	nsv1023697	chr5:178070594-178126328	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537972	chr5:178070594-178126328	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 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	chr5:178070200-178078000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:178072400-178077400	Weak transcription	Osteobl	bone
3	chr5:178072600-178076000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:178072600-178076000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:178072600-178077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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