Variant report

Variant	rs11047869
Chromosome Location	chr12:25313541-25313542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10400492	1.00[EUR][1000 genomes]
rs11047859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11047898	1.00[EUR][1000 genomes]
rs11829456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833781	1.00[EUR][1000 genomes]
rs11835872	1.00[EUR][1000 genomes]
rs12307064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309185	0.89[AMR][1000 genomes]
rs12310887	0.89[AMR][1000 genomes]
rs12313763	1.00[EUR][1000 genomes]
rs34164267	1.00[EUR][1000 genomes]
rs61759608	1.00[EUR][1000 genomes]
rs61759613	1.00[EUR][1000 genomes]
rs61759631	1.00[EUR][1000 genomes]
rs61761086	1.00[EUR][1000 genomes]
rs61761090	1.00[EUR][1000 genomes]
rs61761092	1.00[EUR][1000 genomes]
rs61761151	1.00[EUR][1000 genomes]
rs61762363	1.00[EUR][1000 genomes]
rs61764371	1.00[EUR][1000 genomes]
rs61764377	1.00[EUR][1000 genomes]
rs7134445	0.89[AMR][1000 genomes]
rs7304274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079682	0.89[AMR][1000 genomes]
rs7316187	0.89[AMR][1000 genomes]
rs7953861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25304600-25315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:25311600-25314000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:25312200-25313800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:25312800-25320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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