Variant report

Variant	rs4714930
Chromosome Location	chr6:12852478-12852479
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	chr6:12850332..12852613-chr6:12857347..12858896,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10434854	0.86[ASN][1000 genomes]
rs13192344	0.89[ASN][1000 genomes]
rs13192509	0.89[ASN][1000 genomes]
rs1412740	0.81[EUR][1000 genomes]
rs1412742	0.89[ASN][1000 genomes]
rs1412743	0.89[ASN][1000 genomes]
rs1537334	0.89[ASN][1000 genomes]
rs1537335	0.89[ASN][1000 genomes]
rs1537336	0.89[ASN][1000 genomes]
rs1537337	0.89[ASN][1000 genomes]
rs1537338	0.89[ASN][1000 genomes]
rs1571996	0.86[ASN][1000 genomes]
rs16873431	0.89[ASN][1000 genomes]
rs16873436	0.89[ASN][1000 genomes]
rs16873447	0.89[ASN][1000 genomes]
rs16873449	0.89[ASN][1000 genomes]
rs17617207	0.81[EUR][1000 genomes]
rs2026457	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2065490	0.89[ASN][1000 genomes]
rs2065491	0.89[ASN][1000 genomes]
rs2184027	0.89[ASN][1000 genomes]
rs35278288	0.86[ASN][1000 genomes]
rs35657920	0.97[ASN][1000 genomes]
rs3945322	0.89[ASN][1000 genomes]
rs4142300	0.86[ASN][1000 genomes]
rs4711842	0.89[ASN][1000 genomes]
rs4711845	0.89[ASN][1000 genomes]
rs4711848	0.86[ASN][1000 genomes]
rs4714913	0.89[ASN][1000 genomes]
rs4714931	0.97[ASN][1000 genomes]
rs5017386	0.89[ASN][1000 genomes]
rs56408440	0.86[ASN][1000 genomes]
rs57387500	0.86[ASN][1000 genomes]
rs58666803	0.86[ASN][1000 genomes]
rs60954427	0.82[ASN][1000 genomes]
rs6458493	0.89[ASN][1000 genomes]
rs6458494	0.89[ASN][1000 genomes]
rs6915402	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6915585	0.86[ASN][1000 genomes]
rs6917097	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6919327	0.80[EUR][1000 genomes]
rs7454135	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764490	0.81[EUR][1000 genomes]
rs7768030	0.86[ASN][1000 genomes]
rs7776079	0.81[EUR][1000 genomes]
rs9296486	0.89[ASN][1000 genomes]
rs9296487	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9296488	0.89[ASN][1000 genomes]
rs9296495	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9349344	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9349346	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9349350	0.89[ASN][1000 genomes]
rs9349352	0.89[ASN][1000 genomes]
rs9357503	0.89[ASN][1000 genomes]
rs9367239	0.89[ASN][1000 genomes]
rs9367240	0.89[ASN][1000 genomes]
rs9369605	0.89[ASN][1000 genomes]
rs9369607	0.89[ASN][1000 genomes]
rs9369612	0.94[ASN][1000 genomes]
rs9381435	0.89[ASN][1000 genomes]
rs9381436	0.89[ASN][1000 genomes]
rs9381439	0.89[ASN][1000 genomes]
rs9381451	0.97[ASN][1000 genomes]
rs9395161	0.89[ASN][1000 genomes]
rs9395162	0.89[ASN][1000 genomes]
rs9395172	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9395185	0.97[ASN][1000 genomes]
rs9472672	0.83[ASN][1000 genomes]
rs9472752	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:12849800-12867000	Weak transcription	Brain Anterior Caudate	brain
2	chr6:12851800-12853000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:12851800-12857400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:12852000-12866000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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