Variant report

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10948372	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11755825	0.91[CEU][hapmap];0.84[AMR][1000 genomes]
rs11759412	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13194360	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs28360598	0.90[EUR][1000 genomes]
rs35241555	0.92[EUR][1000 genomes]
rs35266083	0.81[AMR][1000 genomes]
rs35684248	0.90[EUR][1000 genomes]
rs35713382	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129937	0.85[GIH][hapmap];0.82[EUR][1000 genomes]
rs4132045	0.82[EUR][1000 genomes]
rs4236093	0.91[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs4236098	0.82[EUR][1000 genomes]
rs4331981	0.93[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs4711897	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4715043	0.81[JPT][hapmap]
rs4715048	0.81[JPT][hapmap]
rs6901563	0.85[CHB][hapmap]
rs6906890	0.91[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs6916268	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7341250	0.81[JPT][hapmap]
rs7775710	0.91[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap]
rs9349439	0.83[EUR][1000 genomes]
rs9381635	0.83[EUR][1000 genomes]
rs9395336	0.84[CHD][hapmap];0.82[GIH][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs9463363	0.81[JPT][hapmap]
rs9463364	0.81[JPT][hapmap]

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	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4715045	HIVEP1	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12976000-12990200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:12979600-13001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:12982600-12990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:12982600-13002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:12983400-12989000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:12987000-12990600	Weak transcription	Right Ventricle	heart
7	chr6:12988200-12988600	Weak transcription	Aorta	Aorta
8	chr6:12988400-12990600	Weak transcription	Brain Angular Gyrus	brain
9	chr6:12988400-12991200	Weak transcription	Left Ventricle	heart
10	chr6:12988400-12992200	Weak transcription	Fetal Heart	heart

Quick Search: