Variant report

Variant	rs59497517
Chromosome Location	chr8:91232520-91232521
allele	A/G
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	JUND	chr8:91232381-91232870	K562	blood:	n/a	chr8:91232733-91232743
2	CUX1	chr8:91232314-91232861	K562	blood:	n/a	n/a
3	TEAD4	chr8:91232157-91232885	K562	blood:	n/a	n/a
4	EP300	chr8:91232444-91232827	K562	blood:	n/a	chr8:91232601-91232610
5	RCOR1	chr8:91232284-91232855	K562	blood:	n/a	n/a
6	MAZ	chr8:91232213-91232830	K562	blood:	n/a	n/a
7	SPI1	chr8:91232503-91232939	HL-60	blood:	n/a	chr8:91232599-91232612

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91221104..91224664-chr8:91229053..91233226,4	K562	blood:

Variant related genes	Relation type
LINC00534	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10108327	0.87[AMR][1000 genomes]
rs12056604	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12544366	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12545140	0.91[AMR][1000 genomes]
rs12546302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547394	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12548716	0.85[AFR][1000 genomes]
rs12549515	0.85[AMR][1000 genomes]
rs12549630	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549660	0.93[AMR][1000 genomes]
rs12549875	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12550324	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904149	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2189257	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285725	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735301	0.87[AMR][1000 genomes]
rs6470808	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67422313	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7016389	0.91[AMR][1000 genomes]
rs72606643	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72606646	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72606647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72606648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72606649	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72606650	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72606651	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72606652	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72606653	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606654	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606655	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606656	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72606657	0.90[AMR][1000 genomes]
rs7824654	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826142	0.95[EUR][1000 genomes]
rs970473	0.91[AMR][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	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91228400-91236800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:91229600-91238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:91232000-91233200	Enhancers	K562	blood
4	chr8:91232400-91236400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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