Variant report

Variant	rs8001223
Chromosome Location	chr13:50709824-50709825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50655568..50657253-chr13:50709193..50710814,2	K562	blood:
2	chr13:50708042..50711233-chr13:50714851..50719539,6	K562	blood:
3	chr13:50696397..50701500-chr13:50709372..50715454,8	K562	blood:
4	chr13:50707603..50710075-chr13:50713599..50715731,3	K562	blood:
5	chr13:50707488..50710210-chr13:50710470..50711981,2	MCF-7	breast:
6	chr13:50703614..50705801-chr13:50707682..50709905,3	MCF-7	breast:
7	chr13:50697030..50702187-chr13:50707743..50712064,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1056543	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs1326121	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853926	1.00[CEU][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066560	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066569	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066570	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066577	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066578	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066580	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066582	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2066588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284812	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284814	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116235	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58535000	0.83[AFR][1000 genomes]
rs58584173	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59019111	0.93[AMR][1000 genomes]
rs61623782	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561574	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7319019	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73491507	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73491522	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73491532	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494012	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494027	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494031	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74076539	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078710	0.91[AFR][1000 genomes]
rs74078712	0.91[AFR][1000 genomes]
rs74078721	0.83[AFR][1000 genomes]
rs74078726	0.81[AFR][1000 genomes]
rs7986331	0.94[AFR][1000 genomes]
rs7993496	0.91[AFR][1000 genomes]
rs7999257	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50709200-50710400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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