Variant report

Variant	rs12544511
Chromosome Location	chr8:10778853-10778854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10088975	0.82[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10089764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10092968	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093063	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093310	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10113176	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11250090	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11250091	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12543072	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12547012	0.82[ASW][hapmap];1.00[YRI][hapmap]
rs12549720	1.00[AMR][1000 genomes]
rs12550303	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12550307	1.00[AMR][1000 genomes]
rs13439728	0.89[YRI][hapmap]
rs28490515	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28664017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28673205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535423	1.00[AMR][1000 genomes]
rs73535424	1.00[AMR][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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10778400-10780600	ZNF genes & repeats	Pancreas	Pancrea
2	chr8:10778600-10779600	ZNF genes & repeats	Fetal Brain Female	brain
3	chr8:10778600-10780400	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr8:10778800-10779600	ZNF genes & repeats	Brain Angular Gyrus	brain
5	chr8:10778800-10780400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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