Variant report

Variant	rs12401793
Chromosome Location	chr1:221715101-221715102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10429956	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10495165	0.92[EUR][1000 genomes]
rs10495166	0.92[EUR][1000 genomes]
rs10495167	0.92[EUR][1000 genomes]
rs10495168	0.92[EUR][1000 genomes]
rs10863635	0.89[EUR][1000 genomes]
rs11118748	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118806	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11118810	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11118817	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12021627	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12021952	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12025710	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12027038	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12036766	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12036771	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12037629	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12037802	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12044981	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12403055	0.92[EUR][1000 genomes]
rs12403320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404274	0.92[EUR][1000 genomes]
rs12405504	0.92[EUR][1000 genomes]
rs12406074	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12406778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407358	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12409206	0.92[EUR][1000 genomes]
rs12409261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409984	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12410562	0.92[EUR][1000 genomes]
rs12411238	0.92[EUR][1000 genomes]
rs17010272	0.92[EUR][1000 genomes]
rs17010290	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17010309	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17010459	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17010465	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17010479	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17010482	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17010588	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17041848	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17041852	0.92[EUR][1000 genomes]
rs17041853	0.92[EUR][1000 genomes]
rs56756418	0.81[ASN][1000 genomes]
rs58002157	0.92[EUR][1000 genomes]
rs58467896	0.92[EUR][1000 genomes]
rs58516053	0.92[EUR][1000 genomes]
rs58659812	0.92[EUR][1000 genomes]
rs58696164	0.92[EUR][1000 genomes]
rs723760	0.81[ASN][1000 genomes]
rs723761	0.81[ASN][1000 genomes]
rs723762	0.81[ASN][1000 genomes]
rs73106612	0.92[EUR][1000 genomes]
rs73106614	0.92[EUR][1000 genomes]
rs73106616	0.92[EUR][1000 genomes]
rs73106619	0.92[EUR][1000 genomes]
rs73106624	0.92[EUR][1000 genomes]
rs73106634	0.92[EUR][1000 genomes]
rs73116211	0.89[EUR][1000 genomes]
rs73116215	0.92[EUR][1000 genomes]
rs73116221	0.92[EUR][1000 genomes]
rs73117996	0.92[EUR][1000 genomes]
rs73117998	0.92[EUR][1000 genomes]
rs73118002	0.92[EUR][1000 genomes]
rs73119903	0.92[EUR][1000 genomes]
rs73119916	0.92[EUR][1000 genomes]
rs73119926	0.92[EUR][1000 genomes]
rs73119928	0.92[EUR][1000 genomes]
rs73119929	0.92[EUR][1000 genomes]
rs73119932	0.92[EUR][1000 genomes]
rs73119935	0.92[EUR][1000 genomes]
rs73119938	0.92[EUR][1000 genomes]
rs73119939	0.92[EUR][1000 genomes]
rs73119945	0.92[EUR][1000 genomes]
rs73119947	0.92[EUR][1000 genomes]
rs73119948	0.92[EUR][1000 genomes]
rs74144300	0.81[ASN][1000 genomes]
rs74144302	0.81[ASN][1000 genomes]
rs9724660	0.81[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1009838	chr1:221692621-221773945	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535301	chr1:221692621-221773945	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	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	chr1:221713000-221716200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221714800-221715200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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