Variant report

Variant	rs11168488
Chromosome Location	chr12:48643746-48643747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48642199..48644196-chr12:48668410..48670451,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1074175	0.82[ASN][1000 genomes]
rs10747532	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783235	0.90[ASN][1000 genomes]
rs10783240	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783241	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875780	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875781	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168458	0.89[ASN][1000 genomes]
rs11168470	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168471	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168472	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168473	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168475	0.92[ASN][1000 genomes]
rs11168485	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168494	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168513	0.82[ASN][1000 genomes]
rs11168515	0.81[ASN][1000 genomes]
rs11168541	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12422306	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12423529	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12810029	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12815219	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12822431	0.82[ASN][1000 genomes]
rs12831063	0.90[ASN][1000 genomes]
rs1387261	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1844261	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2171643	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2220459	0.82[ASN][1000 genomes]
rs2409002	0.92[ASN][1000 genomes]
rs34417262	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35139757	0.83[EUR][1000 genomes]
rs6580661	0.84[ASN][1000 genomes]
rs7136959	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73116262	0.82[ASN][1000 genomes]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:48641200-48645200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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