Variant report

Variant	rs984136
Chromosome Location	chr8:54189363-54189364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54183317..54185825-chr8:54188088..54189770,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10504151	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1051660	0.99[ASN][1000 genomes]
rs12056411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12056414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16918928	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16918931	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs16918934	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16918938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2303432	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2303433	0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs35970029	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57161200	0.95[ASN][1000 genomes]
rs58452354	0.95[ASN][1000 genomes]
rs6982096	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6986052	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6998851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73589353	0.95[ASN][1000 genomes]
rs73589371	0.95[ASN][1000 genomes]
rs73589373	0.95[ASN][1000 genomes]
rs73589374	0.95[ASN][1000 genomes]
rs73589376	0.95[ASN][1000 genomes]
rs73589378	0.95[ASN][1000 genomes]
rs73589380	0.95[ASN][1000 genomes]
rs73589382	0.95[ASN][1000 genomes]
rs73589387	0.95[ASN][1000 genomes]
rs73589389	0.95[ASN][1000 genomes]
rs73589390	0.95[ASN][1000 genomes]
rs73589391	0.96[ASN][1000 genomes]
rs73589393	0.96[ASN][1000 genomes]
rs73589394	0.96[ASN][1000 genomes]
rs73589396	0.96[ASN][1000 genomes]
rs73589397	0.96[ASN][1000 genomes]
rs73589399	0.96[ASN][1000 genomes]
rs7813478	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7826599	0.95[ASN][1000 genomes]
rs7826614	0.87[JPT][hapmap]
rs7836120	0.87[JPT][hapmap]
rs7840304	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7843965	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7844117	0.94[CHB][hapmap];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	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54189000-54189400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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