Variant report

Variant	rs500371
Chromosome Location	chr1:179902837-179902838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179901208..179903781-chr1:179908885..179911377,2	K562	blood:
2	chr1:179901782..179903357-chr1:179905596..179908288,2	K562	blood:
3	chr1:179890511..179892011-chr1:179902778..179905230,2	MCF-7	breast:
4	chr1:179898573..179901417-chr1:179902522..179905124,2	MCF-7	breast:
5	chr1:179901208..179903839-chr1:179908885..179910627,2	K562	blood:

Variant related genes	Relation type
ENSG00000261831	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10798729	0.81[CEU][hapmap]
rs10913916	0.87[JPT][hapmap]
rs10913917	0.85[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10913918	0.93[JPT][hapmap]
rs10913927	0.88[CEU][hapmap]
rs1281384	0.89[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1281389	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs1292777	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1297205	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1299682	0.94[ASN][1000 genomes]
rs1631932	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2281805	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs2477110	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2477111	0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2477112	0.85[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2477118	0.88[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2483621	0.87[EUR][1000 genomes]
rs2483622	0.80[JPT][hapmap]
rs2501607	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2501608	0.80[JPT][hapmap]
rs2501610	0.82[EUR][1000 genomes]
rs2501611	0.85[CEU][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs2501613	0.88[CEU][hapmap];0.87[JPT][hapmap]
rs2501615	0.86[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs2501616	0.84[EUR][1000 genomes]
rs2501617	0.81[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2501620	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2762859	0.88[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2777910	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3818999	0.84[CEU][hapmap]
rs3930305	0.84[CEU][hapmap]
rs4076449	0.85[CEU][hapmap]
rs4147170	0.81[JPT][hapmap]
rs4256775	0.85[CEU][hapmap]
rs4622030	0.81[JPT][hapmap]
rs4652457	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4652465	0.85[CEU][hapmap]
rs483307	0.85[CEU][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs498625	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs504202	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs510209	0.84[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs521858	0.89[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs526683	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs528350	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs533795	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs534168	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs551607	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs552743	0.93[JPT][hapmap]
rs561233	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs585355	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6425603	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs6425607	0.81[JPT][hapmap]
rs6425609	0.88[CEU][hapmap]
rs6657347	0.88[CEU][hapmap]
rs7521895	0.93[JPT][hapmap]
rs9286932	0.88[CEU][hapmap]
rs9425485	0.80[CEU][hapmap]
rs9425849	0.85[CEU][hapmap]
rs9425854	0.88[CEU][hapmap]
rs9425861	0.83[CEU][hapmap]

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	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:179899600-179905000	Weak transcription	GM12878-XiMat	blood
2	chr1:179902000-179907800	Weak transcription	Stomach Mucosa	stomach
3	chr1:179902200-179906800	Weak transcription	Hela-S3	cervix

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