Variant report

Variant	rs12110055
Chromosome Location	chr5:112650082-112650083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10037836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10037845	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10042401	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10054914	0.85[YRI][hapmap]
rs10056104	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070884	0.85[YRI][hapmap]
rs10077495	0.85[YRI][hapmap]
rs10078931	0.85[YRI][hapmap]
rs10477489	1.00[AMR][1000 genomes]
rs10478116	1.00[AMR][1000 genomes]
rs11951897	0.85[YRI][hapmap]
rs11958613	1.00[AMR][1000 genomes]
rs13357188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13358281	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361060	0.82[YRI][hapmap]
rs17135568	0.89[AMR][1000 genomes]
rs17135570	0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28439752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28462299	1.00[AMR][1000 genomes]
rs28497391	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2860051	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711712	1.00[AMR][1000 genomes]
rs55889115	1.00[AMR][1000 genomes]
rs57727389	0.89[AMR][1000 genomes]
rs59032550	1.00[AMR][1000 genomes]
rs61560548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781509	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781510	1.00[AMR][1000 genomes]
rs73781511	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781512	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7718459	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7720189	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7720243	0.85[YRI][hapmap]
rs7736171	0.95[AFR][1000 genomes];1.00[AMR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv528805	chr5:112641650-112650751	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112649200-112655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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