Variant report

Variant	rs12109217
Chromosome Location	chr5:93244540-93244541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10053405	0.82[YRI][hapmap]
rs10054903	0.82[YRI][hapmap]
rs10055340	0.82[YRI][hapmap]
rs10064368	0.85[YRI][hapmap]
rs10078941	0.85[YRI][hapmap]
rs10079708	0.85[YRI][hapmap]
rs12108870	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12109988	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12716453	0.83[YRI][hapmap]
rs13361613	0.83[YRI][hapmap]
rs7734897	0.85[YRI][hapmap]
rs7736620	0.82[YRI][hapmap]
rs9942403	1.00[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv830405	chr5:93086825-93258518	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033466	chr5:93201089-93250608	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1028893	chr5:93213264-93276883	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1020849	chr5:93228065-93279216	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1030870	chr5:93242611-93282996	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93213000-93256400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:93230600-93250800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:93244400-93245200	Enhancers	H9 Derived Neuron 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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