Variant report

Variant	rs17118453
Chromosome Location	chr14:47855051-47855052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483568	0.83[EUR][1000 genomes]
rs12433443	0.86[ASN][1000 genomes]
rs12433991	0.82[EUR][1000 genomes]
rs12436176	0.82[EUR][1000 genomes]
rs12436524	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12436613	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12436721	0.83[ASN][1000 genomes]
rs17118353	0.80[ASN][1000 genomes]
rs17118405	0.80[ASN][1000 genomes]
rs17118419	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17118432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17674501	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17684860	0.83[EUR][1000 genomes]
rs17740878	0.83[ASN][1000 genomes]
rs17740979	0.86[ASN][1000 genomes]
rs17742627	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745673	0.82[EUR][1000 genomes]
rs17746124	0.82[EUR][1000 genomes]
rs1815638	0.83[ASN][1000 genomes]
rs2277472	0.80[ASN][1000 genomes]
rs2416048	0.83[ASN][1000 genomes]
rs7148112	0.89[ASN][1000 genomes]
rs7154882	0.86[ASN][1000 genomes]
rs7160311	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs72670711	0.83[EUR][1000 genomes]
rs72683858	0.83[ASN][1000 genomes]
rs72683876	0.86[ASN][1000 genomes]
rs72685862	0.92[EUR][1000 genomes]
rs72687639	0.81[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	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv530661	chr14:47754197-47937396	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv498118	chr14:47754197-48274409	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037655	chr14:47827437-47879207	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1053559	chr14:47827437-47880960	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17118453	MAP4K5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47852800-47859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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