Variant report

Variant	rs526683
Chromosome Location	chr1:179912020-179912021
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr1:179911822-179912022	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179904160..179906829-chr1:179911377..179913014,2	K562	blood:
2	chr1:179909218..179916721-chr1:179922197..179926382,9	K562	blood:
3	chr1:179909514..179912296-chr1:179922909..179924946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261831	TF binding region
ENSG00000135837	Chromatin interaction
ENSG00000260360	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10913916	0.93[JPT][hapmap]
rs10913917	0.87[JPT][hapmap]
rs10913918	0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1281384	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1281386	0.92[ASN][1000 genomes]
rs1281389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1297205	0.93[JPT][hapmap]
rs2281805	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2319676	0.84[JPT][hapmap]
rs2319677	0.86[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs2477106	0.93[JPT][hapmap]
rs2477111	0.86[JPT][hapmap]
rs2477112	0.86[JPT][hapmap]
rs2477114	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2477118	0.86[JPT][hapmap]
rs2477119	0.93[JPT][hapmap]
rs2483622	0.93[JPT][hapmap]
rs2501607	0.80[JPT][hapmap]
rs2501608	0.93[JPT][hapmap]
rs2501611	0.87[JPT][hapmap]
rs2501613	0.86[JPT][hapmap]
rs2501615	0.87[JPT][hapmap]
rs2501617	0.80[JPT][hapmap]
rs2501621	0.93[JPT][hapmap]
rs2762859	0.86[JPT][hapmap]
rs2777910	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2985373	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147170	0.85[CEU][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4147171	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4622030	0.85[CEU][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs483307	0.87[JPT][hapmap]
rs500371	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs504202	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs510209	0.86[JPT][hapmap]
rs511332	0.95[ASN][1000 genomes]
rs521858	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs528350	0.93[JPT][hapmap]
rs533795	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs534168	0.93[JPT][hapmap]
rs539324	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs551607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs552743	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs552763	0.85[ASN][1000 genomes]
rs561233	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs585355	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs6425606	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs6425607	0.86[CEU][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap]
rs6660984	0.85[JPT][hapmap]
rs6682558	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs7521895	1.00[JPT][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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179911800-179912200	Enhancers	Primary neutrophils fromperipheralblood	blood

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