Variant report

Variant	rs3846500
Chromosome Location	chr5:50254488-50254489
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50254119..50256881-chr5:50262560..50265438,2	MCF-7	breast:
2	chr5:50252384..50255461-chr5:50257528..50260468,3	K562	blood:

Variant related genes	Relation type
ENSG00000250360	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10035173	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11746939	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1345777	0.94[ASW][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.98[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs149185	0.84[AMR][1000 genomes]
rs151986	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs151997	1.00[ASW][hapmap];0.80[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs152817	0.80[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs152819	0.82[JPT][hapmap]
rs250230	0.88[YRI][hapmap]
rs26087	0.86[AMR][1000 genomes]
rs26088	0.86[AMR][1000 genomes]
rs26089	0.86[AMR][1000 genomes]
rs26090	0.86[AMR][1000 genomes]
rs27247	0.80[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs27248	0.82[JPT][hapmap]
rs27249	1.00[ASW][hapmap];0.80[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs27270	0.86[AMR][1000 genomes]
rs27271	0.86[AMR][1000 genomes]
rs27286	0.86[AMR][1000 genomes]
rs27472	0.84[AMR][1000 genomes]
rs27476	0.86[AMR][1000 genomes]
rs27477	0.82[AMR][1000 genomes]
rs27579	0.85[AMR][1000 genomes]
rs27628	0.82[JPT][hapmap]
rs27847	0.86[AMR][1000 genomes]
rs28090	0.86[AMR][1000 genomes]
rs3846498	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62367393	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6870880	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882235	0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9292165	0.93[AFR][1000 genomes];0.88[AMR][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	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50253400-50255400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:50254400-50254800	Enhancers	Fetal Heart	heart
3	chr5:50254400-50254800	Enhancers	Stomach Mucosa	stomach

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