Variant report

Variant	rs60053128
Chromosome Location	chr12:47020716-47020717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47004476..47006389-chr12:47019123..47021406,2	K562	blood:
2	chr12:47018512..47021454-chr12:47022647..47024563,3	K562	blood:
3	chr12:47018512..47021454-chr12:47022647..47024563,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11183541	0.92[ASN][1000 genomes]
rs1118657	0.98[ASN][1000 genomes]
rs1118658	0.98[ASN][1000 genomes]
rs11504533	0.98[ASN][1000 genomes]
rs12296535	0.88[ASN][1000 genomes]
rs12302091	0.92[ASN][1000 genomes]
rs12303838	0.88[ASN][1000 genomes]
rs12306495	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307183	0.98[ASN][1000 genomes]
rs12311537	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12318364	0.98[ASN][1000 genomes]
rs12321468	0.92[ASN][1000 genomes]
rs1266371	1.00[EUR][1000 genomes]
rs1895088	0.98[ASN][1000 genomes]
rs57964461	0.98[ASN][1000 genomes]
rs58190601	0.88[ASN][1000 genomes]
rs60487001	0.98[ASN][1000 genomes]
rs61562961	0.88[ASN][1000 genomes]
rs73293953	0.98[ASN][1000 genomes]
rs759702	0.88[ASN][1000 genomes]
rs759703	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1814000	chr12:47007493-47033254	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv692	chr12:47018472-47049495	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1848054	chr12:47018846-47033254	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	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	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47003200-47025600	Weak transcription	NHEK	skin
3	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
4	chr12:47019000-47021600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:47020200-47023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:47020600-47023000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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