Variant report

Variant	rs4235475
Chromosome Location	chr5:57146431-57146432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57146231..57148071-chr5:57755899..57757437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10072292	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1821210	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2408854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235476	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4285175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4317282	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4380607	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4403130	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4421067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458541	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513644	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4699913	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4700231	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4700233	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6450442	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6450444	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6896848	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs702699	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs702701	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7701200	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs854035	0.87[AMR][1000 genomes]
rs854036	0.87[AMR][1000 genomes]
rs854038	0.82[AMR][1000 genomes]
rs854039	0.81[AMR][1000 genomes]
rs854042	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs854045	0.81[AMR][1000 genomes]
rs854046	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs854048	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs854049	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs854050	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs854052	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs854053	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs868049	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs897264	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:57138800-57151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57140800-57147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:57146000-57146600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:57146400-57147400	Weak transcription	NHEK	skin

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