Variant report

Variant	rs4321029
Chromosome Location	chr12:50776691-50776692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10467057	0.82[EUR][1000 genomes]
rs10467107	0.82[EUR][1000 genomes]
rs10506292	0.83[JPT][hapmap]
rs10747580	1.00[CEU][hapmap]
rs10783344	0.83[JPT][hapmap]
rs10783361	0.82[EUR][1000 genomes]
rs10876014	0.83[JPT][hapmap]
rs10876015	0.83[JPT][hapmap]
rs10876017	0.83[JPT][hapmap]
rs10876023	0.88[JPT][hapmap]
rs10876024	0.88[JPT][hapmap]
rs10876033	0.82[EUR][1000 genomes]
rs10876035	0.82[EUR][1000 genomes]
rs11169348	0.83[JPT][hapmap]
rs11169350	0.83[JPT][hapmap]
rs11169351	0.83[JPT][hapmap]
rs11169357	0.83[JPT][hapmap]
rs11169360	0.83[JPT][hapmap]
rs11169370	0.83[JPT][hapmap]
rs11169423	0.82[EUR][1000 genomes]
rs11830586	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11833608	0.82[JPT][hapmap]
rs11838347	0.83[JPT][hapmap]
rs12303082	0.83[JPT][hapmap]
rs12422417	0.88[JPT][hapmap]
rs1362983	0.83[JPT][hapmap]
rs17124514	0.88[JPT][hapmap]
rs2111988	0.83[JPT][hapmap]
rs3812825	0.83[JPT][hapmap]
rs4238105	0.82[EUR][1000 genomes]
rs4343103	0.82[EUR][1000 genomes]
rs4348979	0.83[JPT][hapmap]
rs4421818	0.83[JPT][hapmap]
rs4424740	0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs4636745	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768905	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768976	0.82[EUR][1000 genomes]
rs57594106	0.80[EUR][1000 genomes]
rs59210472	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134595	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs7138420	0.94[JPT][hapmap]
rs7138887	0.80[EUR][1000 genomes]
rs7296291	0.83[JPT][hapmap]
rs7304630	0.82[EUR][1000 genomes]
rs7308184	0.82[EUR][1000 genomes]
rs7312252	0.83[JPT][hapmap]
rs7315690	0.94[JPT][hapmap]
rs73305103	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305105	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73305121	0.80[EUR][1000 genomes]
rs7486747	0.83[JPT][hapmap]
rs7489251	0.80[EUR][1000 genomes]
rs7953953	0.83[JPT][hapmap]
rs7959284	0.80[EUR][1000 genomes]
rs7967393	0.82[EUR][1000 genomes]
rs7968898	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7970694	0.82[EUR][1000 genomes]
rs7973910	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979830	0.83[JPT][hapmap]

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	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4321029	POU6F1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50767200-50780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:50770200-50783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:50774200-50781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50775000-50781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links