Variant report

Variant	rs2451711
Chromosome Location	chr6:26663110-26663111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr6:26663005-26663188	HepG2	liver:	n/a	chr6:26663019-26663030

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26656134..26658199-chr6:26661350..26663391,2	K562	blood:
2	chr6:26660872..26663117-chr6:26665109..26666904,2	K562	blood:

Variant related genes	Relation type
ZNF322	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1021372	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1021373	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1027203	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1027204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10484442	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1078679	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12526680	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13207371	0.84[EUR][1000 genomes]
rs1321482	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1490488	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1570059	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1570060	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1570061	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1884947	0.81[CHB][hapmap]
rs2130657	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2172007	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2224380	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2451712	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451731	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451740	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2451741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451744	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451750	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451751	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2494692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2494700	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2494701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2494709	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2494713	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2494716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2498351	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2498380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2504565	1.00[CEU][hapmap];0.85[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2504566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2504592	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2504599	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2504600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2758383	0.85[EUR][1000 genomes]
rs3001369	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34453863	0.89[EUR][1000 genomes]
rs3800303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4368798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62394558	0.82[EUR][1000 genomes]
rs6456733	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6456735	0.90[JPT][hapmap]
rs6918360	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6918506	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6918854	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6922824	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6925087	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6925895	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6930120	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6941022	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs767471	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7753565	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7767847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9295701	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461271	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9461272	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9461273	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9461275	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9461276	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461288	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9467791	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9467798	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9467800	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9467805	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9467810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9467813	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9467831	0.84[EUR][1000 genomes]
rs9986382	0.86[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2451711	ZNF322	cis	Artery Tibial	GTEx
rs2451711	RP11-457M11.2	cis	Artery Tibial	GTEx
rs2451711	RP11-457M11.2	cis	lung	GTEx
rs2451711	HMGN4	Cis_1M	lymphoblastoid	RTeQTL
rs2451711	ZNF322	cis	Nerve Tibial	GTEx
rs2451711	HCG11	Cis_1M	lymphoblastoid	RTeQTL
rs2451711	RP11-457M11.2	cis	Thyroid	GTEx
rs2451711	HMGN4	cis	lesional skin	skin_eQTL
rs2451711	ZNF322	cis	Thyroid	GTEx
rs2451711	RP11-457M11.2	cis	Nerve Tibial	GTEx
rs2451711	ZNF322A	cis	multi-tissue	Pritchard

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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