Variant report

Variant	rs55743140
Chromosome Location	chr3:46051532-46051533
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46035848..46038695-chr3:46046466..46052317,5	K562	blood:
2	chr3:46049509..46051650-chr3:46061569..46063331,2	K562	blood:
3	chr3:46034481..46038695-chr3:46049566..46055289,5	K562	blood:
4	chr3:46044700..46047149-chr3:46047918..46051696,3	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10049103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1078355	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12107160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13060287	0.87[AFR][1000 genomes]
rs13074382	0.86[AFR][1000 genomes]
rs13081213	0.87[AFR][1000 genomes]
rs13082697	0.87[AFR][1000 genomes]
rs13089855	0.89[AFR][1000 genomes]
rs13090194	0.89[AFR][1000 genomes]
rs13097556	0.89[AFR][1000 genomes]
rs13325425	1.00[EUR][1000 genomes]
rs1352880	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491954	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17078464	0.82[AMR][1000 genomes]
rs1846618	1.00[EUR][1000 genomes]
rs1873615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2088690	0.87[AFR][1000 genomes]
rs2088691	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2088692	0.87[AFR][1000 genomes]
rs2102055	0.85[AFR][1000 genomes]
rs2102056	0.84[AFR][1000 genomes]
rs2230322	0.89[AFR][1000 genomes]
rs28393246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454181	1.00[EUR][1000 genomes]
rs34168660	0.89[AFR][1000 genomes]
rs34493660	0.97[AFR][1000 genomes]
rs34584867	0.87[AFR][1000 genomes]
rs34774687	0.87[AFR][1000 genomes]
rs35159820	0.84[AFR][1000 genomes]
rs35454877	0.88[AFR][1000 genomes]
rs35669129	0.89[AFR][1000 genomes]
rs35814488	0.87[AFR][1000 genomes]
rs35921206	0.89[AFR][1000 genomes]
rs35930050	0.89[AFR][1000 genomes]
rs36040135	0.89[AFR][1000 genomes]
rs4362758	0.89[AFR][1000 genomes]
rs4630978	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55875328	0.89[AFR][1000 genomes]
rs56071453	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56239523	0.82[AMR][1000 genomes]
rs56738797	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57228214	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs57375372	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57590663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57636813	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57768435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57800045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57887195	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58050797	0.82[AMR][1000 genomes]
rs58139750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58402224	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58442576	0.82[AMR][1000 genomes]
rs58460482	0.82[AMR][1000 genomes]
rs58491168	0.82[AMR][1000 genomes]
rs58969771	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59065510	1.00[EUR][1000 genomes]
rs59157393	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59676542	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59754516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60019065	0.82[AFR][1000 genomes]
rs60080146	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61201782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61276379	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61556067	0.89[AFR][1000 genomes]
rs61598729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61650989	0.95[AFR][1000 genomes]
rs61686943	1.00[EUR][1000 genomes]
rs67200151	0.89[AFR][1000 genomes]
rs6780028	0.87[AFR][1000 genomes]
rs6788758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6790866	0.85[AFR][1000 genomes]
rs6791016	0.87[AFR][1000 genomes]
rs6791693	0.91[AMR][1000 genomes]
rs67937868	0.89[AFR][1000 genomes]
rs6794222	1.00[EUR][1000 genomes]
rs6798934	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68087193	0.87[AFR][1000 genomes]
rs72885402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887108	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72887131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72887154	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891111	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891128	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891129	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891712	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72899100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904134	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833519	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7427033	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7627147	0.82[AMR][1000 genomes]
rs7638236	0.82[AMR][1000 genomes]
rs876668	0.89[AFR][1000 genomes]
rs978316	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978317	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814908	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9830945	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831926	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844424	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854654	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9859291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9871934	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882976	0.91[AMR][1000 genomes];1.00[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr3:46037600-46053000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:46037600-46064600	Weak transcription	Gastric	stomach
3	chr3:46048600-46053000	Weak transcription	HMEC	breast
4	chr3:46050000-46052600	Weak transcription	Ovary	ovary

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