Variant report

Variant	rs12312349
Chromosome Location	chr12:67028015-67028016
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67026208..67028872-chr12:67043612..67046300,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10878483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176320	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176321	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176329	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176358	1.00[AFR][1000 genomes]
rs12297649	0.91[YRI][hapmap]
rs12307661	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307899	0.91[YRI][hapmap]
rs12309622	0.91[YRI][hapmap]
rs12309778	0.91[YRI][hapmap]
rs12309896	0.91[YRI][hapmap]
rs12311008	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319011	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319603	0.91[YRI][hapmap]
rs12320916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321077	0.88[YRI][hapmap]
rs12321492	0.91[YRI][hapmap]
rs13377630	0.91[YRI][hapmap]
rs13377875	0.91[YRI][hapmap]

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469461	chr12:67007070-67038595	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv559208	chr12:67007070-67038595	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67023400-67033000	Weak transcription	Fetal Kidney	kidney
2	chr12:67025000-67030400	Weak transcription	Pancreas	Pancrea
3	chr12:67026000-67029000	Enhancers	HMEC	breast
4	chr12:67026600-67029200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:67027600-67028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:67027800-67028600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:67027800-67030000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:67028000-67028800	Enhancers	NHEK	skin
9	chr12:67028000-67030000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:67028000-67030200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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