Variant report

Variant	rs12133385
Chromosome Location	chr1:171207680-171207681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10157270	0.99[ASN][1000 genomes]
rs10489230	1.00[ASN][1000 genomes]
rs10798240	0.88[ASN][1000 genomes]
rs10798252	0.92[ASN][1000 genomes]
rs10798253	0.95[ASN][1000 genomes]
rs10912475	0.88[ASN][1000 genomes]
rs10912529	0.94[ASN][1000 genomes]
rs10912542	0.96[ASN][1000 genomes]
rs11806072	0.92[ASN][1000 genomes]
rs12069067	1.00[ASN][1000 genomes]
rs12078953	1.00[ASN][1000 genomes]
rs12080576	0.99[ASN][1000 genomes]
rs12090485	0.98[ASN][1000 genomes]
rs12405613	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567956	0.93[ASN][1000 genomes]
rs12730305	0.94[ASN][1000 genomes]
rs17350523	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1989656	1.00[ASN][1000 genomes]
rs2008706	0.88[ASN][1000 genomes]
rs2049922	1.00[ASN][1000 genomes]
rs2064078	0.99[ASN][1000 genomes]
rs2075987	0.96[ASN][1000 genomes]
rs2075990	0.96[ASN][1000 genomes]
rs2075991	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179105	0.96[ASN][1000 genomes]
rs2205723	0.96[ASN][1000 genomes]
rs2205727	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2205728	1.00[ASN][1000 genomes]
rs2205729	0.99[ASN][1000 genomes]
rs2223228	0.94[ASN][1000 genomes]
rs2223232	1.00[ASN][1000 genomes]
rs2236874	0.95[ASN][1000 genomes]
rs2421709	0.92[ASN][1000 genomes]
rs2421710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421711	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35152982	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3738813	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754494	0.89[ASN][1000 genomes]
rs3768570	0.92[ASN][1000 genomes]
rs4480395	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916182	0.96[ASN][1000 genomes]
rs4916191	0.99[ASN][1000 genomes]
rs4916192	0.99[ASN][1000 genomes]
rs6425394	1.00[ASN][1000 genomes]
rs6425413	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657314	0.92[ASN][1000 genomes]
rs6672029	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6692260	0.96[ASN][1000 genomes]
rs6699803	0.96[ASN][1000 genomes]
rs6701076	0.98[ASN][1000 genomes]
rs6703439	1.00[ASN][1000 genomes]
rs7513485	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520777	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7524635	0.99[ASN][1000 genomes]
rs7525342	0.88[ASN][1000 genomes]
rs7529080	1.00[ASN][1000 genomes]
rs7531713	0.96[ASN][1000 genomes]
rs7531971	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7536822	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538013	0.94[ASN][1000 genomes]
rs7545923	0.88[ASN][1000 genomes]
rs7553869	0.96[ASN][1000 genomes]
rs7887505	0.84[ASN][1000 genomes]
rs926268	0.89[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:171200800-171220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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