Variant report

Variant	rs12549895
Chromosome Location	chr8:118021005-118021006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118020240..118022931-chr8:118026040..118028339,2	K562	blood:
2	chr8:117753207..117755356-chr8:118019404..118021027,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10097285	0.81[ASN][1000 genomes]
rs11778640	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11781136	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11781519	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11781617	0.80[ASN][1000 genomes]
rs11990337	0.87[CHB][hapmap]
rs12547184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13251837	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13253360	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13258165	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13266865	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1348798	1.00[YRI][hapmap]
rs17744843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17744897	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17744945	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17744969	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17745004	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs17745016	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17812443	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs17812479	0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17812503	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs2938860	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4570	1.00[YRI][hapmap]
rs71530853	0.81[ASN][1000 genomes]
rs963926	1.00[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv6360	chr8:118005370-118030914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1800268	chr8:118007295-118021671	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv527876	chr8:118012265-118037316	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr8:118019800-118021600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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