Variant report

Variant	rs12110753
Chromosome Location	chr6:28529994-28529995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28529471..28535442-chr6:28536902..28541186,7	K562	blood:
2	chr6:28527441..28530155-chr6:28531060..28532823,2	K562	blood:
3	chr6:27776748..27779096-chr6:28528969..28530922,2	K562	blood:
4	chr6:27114607..27116563-chr6:28529860..28531607,2	K562	blood:
5	chr6:28529927..28531623-chr6:28556581..28558208,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197903	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000232040	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11753292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754112	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11754599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757235	1.00[ASN][1000 genomes]
rs11758822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111360	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1319076	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16894011	1.00[CEU][hapmap]
rs28382587	1.00[ASN][1000 genomes]
rs2893967	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34211304	1.00[ASN][1000 genomes]
rs34560199	1.00[ASN][1000 genomes]
rs34668037	1.00[ASN][1000 genomes]
rs3886843	1.00[ASN][1000 genomes]
rs4435933	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56958518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73391123	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73402976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402978	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404961	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73404965	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73407134	0.86[AFR][1000 genomes]
rs73407157	0.90[AFR][1000 genomes]
rs73407159	0.90[AFR][1000 genomes]
rs73409121	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73409125	1.00[ASN][1000 genomes]
rs73409140	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7738979	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7770993	0.86[AFR][1000 genomes]
rs7774808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468364	1.00[CEU][hapmap]
rs9791301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr6:28523200-28530600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:28523600-28531400	Weak transcription	HepG2	liver
3	chr6:28529000-28530600	Weak transcription	K562	blood

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