Variant report

Variant	rs1473348
Chromosome Location	chr3:54408995-54408996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:54180378..54181313-chr3:54408336..54409118,3	MCF-7	breast:
2	chr3:54180351..54181371-chr3:54408193..54409184,9	MCF-7	breast:
3	chr3:53975890..53976731-chr3:54408411..54409245,4	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11709302	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11711662	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12632768	0.81[GIH][hapmap]
rs13082754	0.87[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1375521	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1375522	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1449331	0.87[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1992963	0.88[GIH][hapmap]
rs1992964	0.88[GIH][hapmap]
rs2359785	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2359786	0.86[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2359789	0.84[GIH][hapmap]
rs2359790	0.81[GIH][hapmap];0.82[TSI][hapmap]
rs2359793	0.85[GIH][hapmap];0.82[TSI][hapmap]
rs4025912	0.85[GIH][hapmap]
rs4131315	0.88[GIH][hapmap]
rs4974370	0.81[GIH][hapmap]
rs6445653	0.87[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs6445655	0.86[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs6445657	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6769553	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6777368	0.85[EUR][1000 genomes]
rs6804196	0.87[CEU][hapmap];0.89[CHB][hapmap];0.96[GIH][hapmap];0.84[TSI][hapmap]
rs731508	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7372585	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7374435	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7426795	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7429237	0.88[GIH][hapmap]
rs7645545	0.87[CEU][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7653648	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9817603	0.87[CEU][hapmap];0.89[CHB][hapmap];0.96[GIH][hapmap];0.84[TSI][hapmap]
rs9826277	0.86[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9843412	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9864105	0.87[CEU][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9870407	0.81[GIH][hapmap]
rs9874831	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817210	chr3:54365684-54511164	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54392600-54410200	Weak transcription	Ovary	ovary
2	chr3:54395400-54409000	Weak transcription	Right Atrium	heart
3	chr3:54401000-54409600	Weak transcription	Fetal Lung	lung
4	chr3:54406400-54410200	Weak transcription	Psoas Muscle	Psoas
5	chr3:54407800-54411200	Enhancers	Hela-S3	cervix
6	chr3:54408400-54409200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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