Variant report

Variant	rs2213947
Chromosome Location	chr1:158445699-158445700
allele	A/G
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	POLR2A	chr1:158445325-158446284	K562	blood:	n/a	n/a

Variant related genes	Relation type
OR10R2	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1032352	0.95[ASN][1000 genomes]
rs10797010	1.00[ASN][1000 genomes]
rs10797011	0.97[ASN][1000 genomes]
rs10797012	0.97[ASN][1000 genomes]
rs10797013	0.97[ASN][1000 genomes]
rs10797022	0.95[ASN][1000 genomes]
rs10797023	0.95[ASN][1000 genomes]
rs10797024	0.95[ASN][1000 genomes]
rs10908651	1.00[ASN][1000 genomes]
rs10908652	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908653	1.00[ASN][1000 genomes]
rs10908654	0.99[ASN][1000 genomes]
rs10908655	0.99[ASN][1000 genomes]
rs10908656	0.99[ASN][1000 genomes]
rs10908657	0.97[ASN][1000 genomes]
rs10908658	0.97[ASN][1000 genomes]
rs10908659	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10908660	0.97[ASN][1000 genomes]
rs10908661	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10908663	0.95[ASN][1000 genomes]
rs10908664	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1112915	1.00[ASN][1000 genomes]
rs11264976	0.98[ASN][1000 genomes]
rs11264977	0.99[ASN][1000 genomes]
rs11264978	1.00[ASN][1000 genomes]
rs11264981	1.00[ASN][1000 genomes]
rs11264983	0.99[ASN][1000 genomes]
rs11264984	0.97[ASN][1000 genomes]
rs11264985	0.97[ASN][1000 genomes]
rs11264987	0.97[ASN][1000 genomes]
rs11264988	0.97[ASN][1000 genomes]
rs11264994	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264997	0.96[ASN][1000 genomes]
rs1157523	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157525	1.00[ASN][1000 genomes]
rs12034004	0.97[ASN][1000 genomes]
rs12044283	0.97[ASN][1000 genomes]
rs12044288	0.97[ASN][1000 genomes]
rs12075903	0.99[ASN][1000 genomes]
rs12078065	0.97[ASN][1000 genomes]
rs12080815	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12081915	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12118446	0.95[ASN][1000 genomes]
rs12122663	0.93[ASN][1000 genomes]
rs12133791	0.93[ASN][1000 genomes]
rs12133794	0.93[ASN][1000 genomes]
rs12145401	0.95[ASN][1000 genomes]
rs12403685	1.00[ASN][1000 genomes]
rs1342946	1.00[ASN][1000 genomes]
rs1342947	0.98[ASN][1000 genomes]
rs1342949	0.90[ASN][1000 genomes]
rs1342950	0.97[ASN][1000 genomes]
rs1342952	0.97[ASN][1000 genomes]
rs1342953	0.97[ASN][1000 genomes]
rs1342954	0.97[ASN][1000 genomes]
rs1418843	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418844	0.99[ASN][1000 genomes]
rs1418845	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1418846	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1418847	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1491196	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1578761	0.95[ASN][1000 genomes]
rs1578762	0.95[ASN][1000 genomes]
rs1578763	0.95[ASN][1000 genomes]
rs17630699	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1873509	0.99[ASN][1000 genomes]
rs1873510	0.99[ASN][1000 genomes]
rs1873511	0.99[ASN][1000 genomes]
rs1894038	1.00[ASN][1000 genomes]
rs1894040	1.00[ASN][1000 genomes]
rs2023632	0.99[ASN][1000 genomes]
rs2051450	0.95[ASN][1000 genomes]
rs2051451	0.97[ASN][1000 genomes]
rs2157687	0.95[ASN][1000 genomes]
rs2157689	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220633	1.00[ASN][1000 genomes]
rs2317969	0.95[ASN][1000 genomes]
rs2317970	0.93[ASN][1000 genomes]
rs2873593	0.93[ASN][1000 genomes]
rs2873594	0.93[ASN][1000 genomes]
rs2873595	0.93[ASN][1000 genomes]
rs4276920	0.93[ASN][1000 genomes]
rs4373761	0.97[ASN][1000 genomes]
rs4575081	0.93[ASN][1000 genomes]
rs4609418	0.97[ASN][1000 genomes]
rs4614256	0.97[ASN][1000 genomes]
rs57366633	1.00[ASN][1000 genomes]
rs6427438	1.00[ASN][1000 genomes]
rs6427439	0.99[ASN][1000 genomes]
rs6657638	0.95[ASN][1000 genomes]
rs6663277	0.95[ASN][1000 genomes]
rs6664542	0.99[ASN][1000 genomes]
rs6666609	0.95[ASN][1000 genomes]
rs6670343	0.95[ASN][1000 genomes]
rs6672789	0.95[ASN][1000 genomes]
rs6674656	0.95[ASN][1000 genomes]
rs6679056	1.00[ASN][1000 genomes]
rs6689657	0.99[ASN][1000 genomes]
rs6697656	0.88[ASN][1000 genomes]
rs6699473	0.95[ASN][1000 genomes]
rs7514555	1.00[ASN][1000 genomes]
rs7514968	0.95[ASN][1000 genomes]
rs7515245	0.95[ASN][1000 genomes]
rs7518708	0.93[ASN][1000 genomes]
rs7518808	0.95[ASN][1000 genomes]
rs7525362	0.95[ASN][1000 genomes]
rs7526514	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7533071	0.93[ASN][1000 genomes]
rs7540999	0.93[ASN][1000 genomes]
rs7548349	0.95[ASN][1000 genomes]
rs7549123	1.00[ASN][1000 genomes]
rs7551497	1.00[ASN][1000 genomes]
rs7555174	0.96[ASN][1000 genomes]
rs863345	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs863346	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs863347	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs863351	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs863352	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs863353	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs863356	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs879635	0.99[ASN][1000 genomes]
rs879637	0.99[ASN][1000 genomes]
rs923663	0.93[ASN][1000 genomes]
rs923664	0.93[ASN][1000 genomes]
rs949397	0.99[ASN][1000 genomes]
rs949398	0.99[ASN][1000 genomes]
rs950260	0.95[ASN][1000 genomes]
rs950487	0.99[ASN][1000 genomes]
rs9804005	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158436000-158449600	Weak transcription	Thymus	Thymus
2	chr1:158444200-158456600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:158445000-158446400	Weak transcription	Fetal Thymus	thymus
4	chr1:158445600-158449600	Weak transcription	Dnd41	blood

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