Variant report

Variant	rs12640347
Chromosome Location	chr4:125892184-125892185
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	chr4:125631123..125633987-chr4:125891093..125893691,2	MCF-7	breast:
2	chr4:125887745..125891484-chr4:125891733..125896629,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10018655	0.86[EUR][1000 genomes]
rs10028180	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10031663	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098785	0.86[EUR][1000 genomes]
rs12331172	0.91[EUR][1000 genomes]
rs12331744	0.92[EUR][1000 genomes]
rs12331747	0.92[EUR][1000 genomes]
rs12331751	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332053	0.92[EUR][1000 genomes]
rs12512016	0.92[EUR][1000 genomes]
rs12640447	0.95[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13101724	0.93[EUR][1000 genomes]
rs13113858	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13140808	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1483590	0.92[EUR][1000 genomes]
rs1483591	0.91[EUR][1000 genomes]
rs1483606	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1548144	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1846198	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2390744	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4303992	0.93[EUR][1000 genomes]
rs56354365	0.91[AFR][1000 genomes]
rs6534453	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830717	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722548	0.93[EUR][1000 genomes]
rs722549	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 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	chr4:125889400-125894600	Weak transcription	Fetal Heart	heart
2	chr4:125891000-125892200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:125891600-125892400	Enhancers	HMEC	breast
4	chr4:125891800-125892600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:125892000-125892400	Enhancers	NHEK	skin

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