Variant report

Variant	rs62508991
Chromosome Location	chr8:50085094-50085095
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50084279..50086501-chr8:50089833..50092255,3	K562	blood:
2	chr8:50083760..50086501-chr8:50089833..50092673,4	K562	blood:
3	chr8:50078942..50082109-chr8:50083366..50086406,3	K562	blood:

Variant related genes	Relation type
ENSG00000253474	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1026802	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1031927	0.81[ASN][1000 genomes]
rs10957378	0.81[ASN][1000 genomes]
rs1124263	0.81[ASN][1000 genomes]
rs11774357	0.81[ASN][1000 genomes]
rs11780027	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11780058	0.84[ASN][1000 genomes]
rs12541755	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542007	0.84[ASN][1000 genomes]
rs12542224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542454	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544217	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544632	0.86[ASN][1000 genomes]
rs12544636	0.84[ASN][1000 genomes]
rs12544640	0.86[ASN][1000 genomes]
rs12544867	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544885	0.80[ASN][1000 genomes]
rs12544912	0.80[ASN][1000 genomes]
rs12545405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546666	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547078	0.81[EUR][1000 genomes]
rs12547148	0.81[ASN][1000 genomes]
rs12548013	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12549218	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549226	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549580	0.80[ASN][1000 genomes]
rs12549733	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12550543	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550595	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13248609	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13249419	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13253391	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13257469	0.81[ASN][1000 genomes]
rs13266232	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13267089	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13267457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267460	0.81[ASN][1000 genomes]
rs13268333	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13268457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269101	0.80[ASN][1000 genomes]
rs13270612	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272842	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13273001	0.81[ASN][1000 genomes]
rs13274211	0.81[ASN][1000 genomes]
rs13276713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13277014	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13277191	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13277298	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1480395	0.80[ASN][1000 genomes]
rs1564429	0.81[ASN][1000 genomes]
rs17646448	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17718911	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17719068	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17719132	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17719461	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1842405	0.80[ASN][1000 genomes]
rs2046075	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2127682	0.87[ASN][1000 genomes]
rs2127683	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385323	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2385326	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33999498	0.81[ASN][1000 genomes]
rs34100718	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34244111	0.87[ASN][1000 genomes]
rs34257797	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34276168	0.87[ASN][1000 genomes]
rs34773335	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34806739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34838515	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34853607	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34912035	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35071269	0.87[ASN][1000 genomes]
rs35136937	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35271168	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35301703	0.87[ASN][1000 genomes]
rs35326477	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35333021	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35347194	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35435104	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35521193	0.87[ASN][1000 genomes]
rs35590399	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35629336	0.85[ASN][1000 genomes]
rs35689555	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35699802	0.87[ASN][1000 genomes]
rs35758897	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35892058	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35897910	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4242453	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4307358	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4587347	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4617168	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873103	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873104	0.81[ASN][1000 genomes]
rs4873324	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873326	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873327	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873328	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873329	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873330	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873332	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873333	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873334	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873335	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873337	0.81[ASN][1000 genomes]
rs55988401	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57184728	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62507357	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62508669	0.86[ASN][1000 genomes]
rs62508670	0.86[ASN][1000 genomes]
rs62508984	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62508987	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62509029	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62509030	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6472284	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651279	0.80[ASN][1000 genomes]
rs6651281	0.81[ASN][1000 genomes]
rs6651309	0.83[ASN][1000 genomes]
rs6651310	0.85[ASN][1000 genomes]
rs6651311	0.84[ASN][1000 genomes]
rs6651312	0.82[ASN][1000 genomes]
rs6981154	0.81[ASN][1000 genomes]
rs6989237	0.80[ASN][1000 genomes]
rs6992674	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7001744	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7001907	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7007122	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7007136	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7462674	0.81[ASN][1000 genomes]
rs7814401	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7835937	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv1793350	chr8:50013702-50102628	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50083800-50085200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:50083800-50085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:50083800-50085200	Enhancers	GM12878-XiMat	blood
4	chr8:50084400-50085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:50084600-50085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:50084600-50085200	Enhancers	HMEC	breast
7	chr8:50084600-50085200	Enhancers	NHEK	skin
8	chr8:50084800-50085800	Weak transcription	K562	blood

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