Variant report

Variant	rs12229731
Chromosome Location	chr12:63803926-63803927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10467073	1.00[EUR][1000 genomes]
rs10878037	1.00[EUR][1000 genomes]
rs10878038	1.00[EUR][1000 genomes]
rs11174927	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174934	1.00[EUR][1000 genomes]
rs11174940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174957	1.00[AMR][1000 genomes]
rs11174960	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174964	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174967	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174972	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174977	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11175001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146103	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1146107	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1146108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11533671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11534939	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12226978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12230420	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12230481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1250658	0.85[EUR][1000 genomes]
rs1251784	0.92[ASN][1000 genomes]
rs1251785	0.89[ASN][1000 genomes]
rs1607802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17099426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs499855	0.82[ASN][1000 genomes]
rs503713	0.93[ASN][1000 genomes]
rs544710	0.85[ASN][1000 genomes]
rs575024	0.95[ASN][1000 genomes]
rs73321977	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7342410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7979155	1.00[EUR][1000 genomes]
rs9805075	1.00[EUR][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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1044694	chr12:63746069-63920831	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2422401	chr12:63778527-64017057	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv899167	chr12:63795229-63906892	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63801800-63807600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:63802000-63804200	Enhancers	Dnd41	blood
3	chr12:63802200-63805800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:63802200-63807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:63802400-63804000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:63802800-63804200	Weak transcription	Left Ventricle	heart
7	chr12:63803000-63805200	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:63803000-63805400	Enhancers	HUVEC	blood vessel
9	chr12:63803400-63805200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:63803800-63804200	Flanking Active TSS	Primary T cells from cord blood	blood

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