Variant report

Variant	rs1247351
Chromosome Location	chr6:161363919-161363920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161355190..161357461-chr6:161362771..161365212,2	K562	blood:
2	chr6:161347613..161349495-chr6:161362654..161364258,2	K562	blood:
3	chr6:161355306..161358142-chr6:161361985..161363956,2	MCF-7	breast:
4	chr6:161362872..161367165-chr6:161367890..161370793,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1247293	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247295	0.89[ASN][1000 genomes]
rs1247297	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247301	0.95[CEU][hapmap];0.90[CHB][hapmap];0.96[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247303	0.95[CEU][hapmap];0.90[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1247311	0.90[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1247348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247352	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247354	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247355	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1247356	0.85[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247359	0.90[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.89[ASN][1000 genomes]
rs1937475	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2248982	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465845	0.87[JPT][hapmap];0.87[MEX][hapmap]
rs2489957	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2489959	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs935184	0.89[ASN][1000 genomes]
rs9365233	0.81[ASW][hapmap];0.95[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][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	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161359800-161365400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:161361600-161372200	Weak transcription	Esophagus	oesophagus

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