Variant report

Variant	rs12040033
Chromosome Location	chr1:79830100-79830101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10489649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11162657	1.00[AFR][1000 genomes]
rs11811462	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021904	0.83[ASN][1000 genomes]
rs12023367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12024442	1.00[AMR][1000 genomes]
rs12024949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12025109	0.82[EUR][1000 genomes]
rs12025146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12025643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12026006	1.00[AMR][1000 genomes]
rs12026857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12026909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12026969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12027492	1.00[AMR][1000 genomes]
rs12027718	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027821	0.82[EUR][1000 genomes]
rs12027888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12028685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12029642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12030013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12031186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12033889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12034665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12035431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12036690	1.00[AFR][1000 genomes]
rs12036705	0.82[EUR][1000 genomes]
rs12036905	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12038491	1.00[AFR][1000 genomes]
rs12039243	1.00[AFR][1000 genomes]
rs12039488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12039867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12039920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12039923	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12040121	1.00[AMR][1000 genomes]
rs12040237	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12040880	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12041180	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12042159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12043955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12044503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12044515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12044896	0.83[ASN][1000 genomes]
rs12044901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12045663	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12045991	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12046684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12046726	0.83[ASN][1000 genomes]
rs12047490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12047951	0.83[ASN][1000 genomes]
rs12048398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12048746	0.83[ASN][1000 genomes]
rs12049068	0.83[ASN][1000 genomes]
rs12049507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1331715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412140	1.00[AMR][1000 genomes]
rs17103209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17103224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17103273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17103305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2088103	0.83[ASN][1000 genomes]
rs2132054	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3000134	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000143	0.83[ASN][1000 genomes]
rs3000144	0.83[ASN][1000 genomes]
rs3000145	0.83[ASN][1000 genomes]
rs3000146	0.83[ASN][1000 genomes]
rs3000157	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015018	0.83[ASN][1000 genomes]
rs3015069	1.00[ASN][1000 genomes]
rs5003964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425165	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv870962	chr1:79755185-79835066	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv830337	chr1:79791879-79913241	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv546633	chr1:79794719-79877035	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv871649	chr1:79807447-79924175	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1004014	chr1:79811049-80042309	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79830000-79830200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:79830000-79831200	Enhancers	HUES48 Cell Line	embryonic stem cell

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