Variant report

Variant	rs1411179
Chromosome Location	chr8:132016011-132016012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:132012132..132016586-chr8:132017205..132020663,4	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10097729	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10109398	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1023095	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1028945	0.88[EUR][1000 genomes]
rs10956570	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10956571	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11989347	0.88[EUR][1000 genomes]
rs11997256	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549392	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12674631	0.85[EUR][1000 genomes]
rs12678691	0.86[EUR][1000 genomes]
rs13258076	0.85[EUR][1000 genomes]
rs13265695	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1329797	0.85[EUR][1000 genomes]
rs1329798	0.85[EUR][1000 genomes]
rs1329804	0.84[EUR][1000 genomes]
rs1411178	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs1411180	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1411182	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411186	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411187	0.86[EUR][1000 genomes]
rs1556163	0.85[EUR][1000 genomes]
rs1590868	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1590869	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1888082	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2210061	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28508149	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4376482	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4388440	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4389912	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4392877	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs4403388	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4407864	0.87[EUR][1000 genomes]
rs4736731	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4736734	0.88[EUR][1000 genomes]
rs4736735	0.87[EUR][1000 genomes]
rs6470877	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs6470878	0.94[EUR][1000 genomes]
rs6470882	0.88[EUR][1000 genomes]
rs6470883	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983987	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984356	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6988204	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs7004104	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7007726	0.85[EUR][1000 genomes]
rs7832434	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7835943	0.86[EUR][1000 genomes]
rs7840086	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841164	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884102	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs913819	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs928137	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs928138	0.88[EUR][1000 genomes]
rs932904	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959204	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1026579	chr8:131922531-132695045	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2761471	chr8:131963290-132281905	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv891449	chr8:132011279-132128690	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131997400-132020000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:132012000-132017600	Weak transcription	Brain Substantia Nigra	brain
3	chr8:132016000-132016200	Enhancers	Brain Hippocampus Middle	brain
4	chr8:132016000-132016400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:132016000-132017800	Weak transcription	Brain Cingulate Gyrus	brain

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