Variant report

Variant	rs10848552
Chromosome Location	chr12:1797056-1797057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1795628..1797251-chr12:1799759..1801605,2	K562	blood:
2	chr12:1774139..1776041-chr12:1794972..1797098,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1029629	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10848551	0.98[ASN][1000 genomes]
rs10848553	0.99[ASN][1000 genomes]
rs11061918	0.83[ASN][1000 genomes]
rs11061920	0.99[ASN][1000 genomes]
rs11061921	0.96[ASN][1000 genomes]
rs11061924	0.99[ASN][1000 genomes]
rs11061925	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061927	0.97[ASN][1000 genomes]
rs11061957	0.92[ASN][1000 genomes]
rs11061962	0.92[ASN][1000 genomes]
rs1136213	0.98[ASN][1000 genomes]
rs11832817	0.94[ASN][1000 genomes]
rs12230579	0.94[ASN][1000 genomes]
rs12231894	0.92[ASN][1000 genomes]
rs12582624	0.94[ASN][1000 genomes]
rs12810020	0.94[ASN][1000 genomes]
rs2058034	0.96[ASN][1000 genomes]
rs2058035	0.99[ASN][1000 genomes]
rs2370055	0.84[ASN][1000 genomes]
rs34375871	0.92[ASN][1000 genomes]
rs4766413	0.94[ASN][1000 genomes]
rs6489320	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489323	0.96[ASN][1000 genomes]
rs6489324	0.94[ASN][1000 genomes]
rs66590925	0.92[ASN][1000 genomes]
rs7132033	0.97[ASN][1000 genomes]
rs7297509	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1796600-1799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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