Variant report

Variant	rs7462603
Chromosome Location	chr8:54277290-54277291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090392	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10100335	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504151	0.85[CEU][hapmap]
rs10958354	1.00[ASN][1000 genomes]
rs12056411	0.85[CEU][hapmap]
rs12056414	0.85[CEU][hapmap]
rs16918928	0.85[CEU][hapmap]
rs16918931	0.85[CEU][hapmap]
rs16918934	0.85[CEU][hapmap]
rs16918938	0.85[CEU][hapmap]
rs2303432	0.85[CEU][hapmap]
rs2303433	0.85[CEU][hapmap]
rs59043999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62505430	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473811	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473812	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473813	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981264	0.86[ASN][1000 genomes]
rs6981962	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982096	0.85[CEU][hapmap]
rs6985500	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986052	0.85[CEU][hapmap]
rs6986486	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004141	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006592	1.00[CEU][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs73588586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73588587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73594475	0.86[ASN][1000 genomes]
rs7813478	0.85[CEU][hapmap]
rs7840304	0.85[CEU][hapmap]
rs7843186	0.81[ASN][1000 genomes]
rs7843965	0.85[CEU][hapmap]
rs7844117	0.85[CEU][hapmap]
rs9720873	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:54274200-54278800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54274400-54278800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:54275400-54281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:54277000-54278200	Weak transcription	Fetal Brain Female	brain

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