Variant report

Variant	rs2022478
Chromosome Location	chr6:127111947-127111948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1077890	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1105955	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1105956	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11154369	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11154374	0.89[EUR][1000 genomes]
rs11154375	0.89[EUR][1000 genomes]
rs11154377	0.89[EUR][1000 genomes]
rs11154378	0.89[EUR][1000 genomes]
rs11752270	0.82[ASN][1000 genomes]
rs11752287	0.89[EUR][1000 genomes]
rs11754682	0.82[ASN][1000 genomes]
rs11755390	0.89[EUR][1000 genomes]
rs11757951	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11759735	0.87[EUR][1000 genomes]
rs12173960	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12234117	0.89[EUR][1000 genomes]
rs12234163	0.89[EUR][1000 genomes]
rs12664316	0.89[EUR][1000 genomes]
rs13190766	0.82[ASN][1000 genomes]
rs13196855	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13201060	0.83[ASN][1000 genomes]
rs13201789	0.86[ASN][1000 genomes]
rs13204751	0.89[EUR][1000 genomes]
rs13207064	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13207638	0.81[ASN][1000 genomes]
rs13209747	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213649	0.88[EUR][1000 genomes]
rs13215166	0.83[ASN][1000 genomes]
rs13216524	0.86[ASN][1000 genomes]
rs1539554	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1539556	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1543705	0.88[EUR][1000 genomes]
rs1543706	0.89[EUR][1000 genomes]
rs1543707	0.89[EUR][1000 genomes]
rs1592287	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1592288	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17570053	0.81[ASN][1000 genomes]
rs1832986	0.89[EUR][1000 genomes]
rs1930942	0.89[EUR][1000 genomes]
rs1930943	0.89[EUR][1000 genomes]
rs1930944	0.89[EUR][1000 genomes]
rs2021707	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021708	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022477	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022479	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077111	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2143679	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179723	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225642	0.85[EUR][1000 genomes]
rs3195537	0.88[EUR][1000 genomes]
rs34259221	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34443655	0.82[ASN][1000 genomes]
rs34656055	0.83[ASN][1000 genomes]
rs35111006	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35211576	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35697500	0.88[EUR][1000 genomes]
rs35870379	0.89[EUR][1000 genomes]
rs35900147	0.83[ASN][1000 genomes]
rs3926855	0.89[EUR][1000 genomes]
rs4294027	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4424110	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4618551	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897190	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58274947	0.87[EUR][1000 genomes]
rs59540076	0.82[ASN][1000 genomes]
rs62426305	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62426327	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62439171	0.89[EUR][1000 genomes]
rs62439174	0.88[EUR][1000 genomes]
rs62439175	0.88[EUR][1000 genomes]
rs62439176	0.88[EUR][1000 genomes]
rs6902861	0.86[EUR][1000 genomes]
rs6908014	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6920370	0.89[EUR][1000 genomes]
rs6921132	0.89[EUR][1000 genomes]
rs6940295	0.89[EUR][1000 genomes]
rs6940442	0.82[EUR][1000 genomes]
rs6941106	0.89[EUR][1000 genomes]
rs761356	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7739746	0.88[EUR][1000 genomes]
rs7745882	0.89[EUR][1000 genomes]
rs7746534	0.89[EUR][1000 genomes]
rs7753502	0.87[EUR][1000 genomes]
rs7766269	0.89[EUR][1000 genomes]
rs9372844	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9372845	0.86[ASN][1000 genomes]
rs9372849	0.89[EUR][1000 genomes]
rs9372850	0.88[EUR][1000 genomes]
rs9372851	0.87[EUR][1000 genomes]
rs9375454	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375455	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375456	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375457	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375459	0.86[ASN][1000 genomes]
rs9375460	0.85[ASN][1000 genomes]
rs9375472	0.83[ASN][1000 genomes]
rs9375474	0.82[ASN][1000 genomes]
rs9385405	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388518	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9388519	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388520	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388521	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388522	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388523	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388524	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388525	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9388530	0.86[ASN][1000 genomes]
rs9388535	0.83[ASN][1000 genomes]
rs9398816	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398817	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398821	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9398822	0.82[ASN][1000 genomes]
rs9401908	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9401912	0.86[ASN][1000 genomes]
rs983668	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1026498	chr6:126812609-127397240	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1024206	chr6:126873187-127475713	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538438	chr6:126873187-127475713	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1020322	chr6:127087551-127331285	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127110800-127119200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:127111000-127116200	Weak transcription	NHDF-Ad	bronchial

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