Variant report

Variant	rs17118504
Chromosome Location	chr14:47858021-47858022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10136895	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10141600	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10143731	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10147494	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10151311	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10467788	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11157555	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11157557	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11625301	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12147667	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12590461	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12883727	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12894830	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17118508	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17118530	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2416056	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2416058	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57645873	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61173432	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61663660	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6572416	0.87[EUR][1000 genomes]
rs7142187	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7143762	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7146502	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7147159	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7149079	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7152403	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7159841	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7159880	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7160330	0.86[EUR][1000 genomes]
rs74047416	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7493803	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8015962	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8021251	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9323133	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9652333	0.85[AMR][1000 genomes];0.92[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

No data

Chromatin state (count:5 , 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
2	chr14:47858000-47858200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:47858000-47858200	Enhancers	Brain Angular Gyrus	brain
4	chr14:47858000-47859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:47858000-47861000	Weak transcription	Fetal Brain Male	brain

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