Variant report

Variant	rs56329085
Chromosome Location	chr1:224040177-224040178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224039824..224041644-chr1:224060638..224062824,2	K562	blood:
2	chr1:224031495..224036851-chr1:224037356..224045519,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1003061	0.90[ASN][1000 genomes]
rs1153927	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153929	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153930	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153933	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153934	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153936	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1153937	0.93[EUR][1000 genomes]
rs1153938	0.93[EUR][1000 genomes]
rs1153943	0.94[EUR][1000 genomes]
rs1153947	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1153949	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1153971	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1153973	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1222120	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1222121	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1222124	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1222128	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1222146	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1222156	0.85[EUR][1000 genomes]
rs1621129	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1629850	0.84[EUR][1000 genomes]
rs16842270	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16842294	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16842321	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1981171	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1982610	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1982612	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1982613	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242188	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28370163	0.89[EUR][1000 genomes]
rs28370164	0.89[EUR][1000 genomes]
rs28370167	0.89[EUR][1000 genomes]
rs28370172	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3738370	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767709	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653457	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56918361	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59104475	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59196624	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60131749	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60164080	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60739082	0.87[ASN][1000 genomes]
rs6604726	0.87[ASN][1000 genomes]
rs6661816	0.89[ASN][1000 genomes]
rs6675712	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6687003	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6694214	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6694471	0.81[ASN][1000 genomes]
rs72749554	0.90[EUR][1000 genomes]
rs72749569	0.94[EUR][1000 genomes]
rs72749588	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs737066	0.84[EUR][1000 genomes]
rs750873	0.85[EUR][1000 genomes]
rs7536779	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs898878	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr1:224034800-224041200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:224035000-224041200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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