Variant report

Variant	rs73279557
Chromosome Location	chr12:40803246-40803247
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40802843..40805068-chr12:40806902..40808859,2	K562	blood:
2	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo
3	chr12:40802735..40804254-chr12:40811941..40814562,2	K562	blood:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction
ENSG00000258167	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10506153	1.00[ASN][1000 genomes]
rs10878244	1.00[ASN][1000 genomes]
rs10878246	1.00[ASN][1000 genomes]
rs11564128	1.00[ASN][1000 genomes]
rs11564175	1.00[ASN][1000 genomes]
rs11564177	1.00[ASN][1000 genomes]
rs11564203	1.00[ASN][1000 genomes]
rs11564204	1.00[ASN][1000 genomes]
rs11564205	1.00[ASN][1000 genomes]
rs11564207	1.00[ASN][1000 genomes]
rs11564267	1.00[ASN][1000 genomes]
rs11829088	1.00[ASN][1000 genomes]
rs11834950	1.00[ASN][1000 genomes]
rs1491936	1.00[ASN][1000 genomes]
rs17128385	1.00[ASN][1000 genomes]
rs17443552	1.00[ASN][1000 genomes]
rs17444096	1.00[ASN][1000 genomes]
rs17444542	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444612	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466430	1.00[ASN][1000 genomes]
rs17491061	1.00[ASN][1000 genomes]
rs17492082	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519573	1.00[ASN][1000 genomes]
rs17520251	1.00[ASN][1000 genomes]
rs17520278	1.00[ASN][1000 genomes]
rs1907632	1.00[ASN][1000 genomes]
rs1907633	1.00[ASN][1000 genomes]
rs2098965	0.81[AFR][1000 genomes]
rs2114567	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55775102	1.00[ASN][1000 genomes]
rs56322620	1.00[ASN][1000 genomes]
rs57997594	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60776971	1.00[ASN][1000 genomes]
rs61007767	1.00[ASN][1000 genomes]
rs73094605	1.00[ASN][1000 genomes]
rs73100409	1.00[ASN][1000 genomes]
rs73100414	1.00[ASN][1000 genomes]
rs73110067	1.00[ASN][1000 genomes]
rs73110075	1.00[ASN][1000 genomes]
rs73115378	1.00[ASN][1000 genomes]
rs73115394	1.00[ASN][1000 genomes]
rs73115401	1.00[ASN][1000 genomes]
rs73117512	1.00[ASN][1000 genomes]
rs73119913	1.00[ASN][1000 genomes]
rs73275761	1.00[ASN][1000 genomes]
rs73277585	0.81[AFR][1000 genomes]
rs73277591	0.81[AFR][1000 genomes]
rs73277595	0.81[AFR][1000 genomes]
rs73279554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9705735	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1047639	chr12:40774370-40804386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv558599	chr12:40790698-40814452	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv558600	chr12:40802840-40820632	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv558601	chr12:40802840-40824917	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv558602	chr12:40802840-40825487	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 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	chr12:40799600-40813200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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