Variant report

Variant	rs56072540
Chromosome Location	chr2:127294388-127294389
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127290201..127292362-chr2:127293377..127296094,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11674285	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11677531	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11681865	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11684739	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11684984	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11688466	0.83[AFR][1000 genomes]
rs11690602	0.83[AFR][1000 genomes]
rs11691316	0.83[AFR][1000 genomes]
rs11883942	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904079	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12990019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993851	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12996594	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12996629	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12999041	0.83[AFR][1000 genomes]
rs13000835	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13002409	0.89[EUR][1000 genomes]
rs13002851	0.91[EUR][1000 genomes]
rs13003278	0.91[EUR][1000 genomes]
rs13005708	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13008004	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13008398	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13010045	0.83[AFR][1000 genomes]
rs13020525	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13020607	0.83[AFR][1000 genomes]
rs13023737	0.83[EUR][1000 genomes]
rs13024070	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13025129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13033014	0.91[EUR][1000 genomes]
rs13034238	0.83[AFR][1000 genomes]
rs13035307	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13036140	0.83[AFR][1000 genomes]
rs1371627	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387284	0.90[EUR][1000 genomes]
rs17677529	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34228135	0.83[AFR][1000 genomes]
rs34548924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34653086	0.90[EUR][1000 genomes]
rs34662457	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34690725	0.90[EUR][1000 genomes]
rs34731630	0.83[AFR][1000 genomes]
rs34939949	0.83[AFR][1000 genomes]
rs34981967	0.83[AFR][1000 genomes]
rs35012492	0.91[EUR][1000 genomes]
rs35260231	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35338260	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35364068	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35371374	0.91[EUR][1000 genomes]
rs35384854	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35453044	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506144	0.83[AFR][1000 genomes]
rs35683961	0.82[EUR][1000 genomes]
rs35703634	0.90[EUR][1000 genomes]
rs35901702	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35944462	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35976822	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36061035	0.83[AFR][1000 genomes]
rs36109238	0.90[EUR][1000 genomes]
rs55733801	0.91[EUR][1000 genomes]
rs56049721	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56100722	0.91[EUR][1000 genomes]
rs56332215	0.83[EUR][1000 genomes]
rs66530889	0.83[AFR][1000 genomes]
rs66701958	0.83[AFR][1000 genomes]
rs66815786	0.83[AFR][1000 genomes]
rs66993274	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67155347	0.83[AFR][1000 genomes]
rs67271291	0.91[EUR][1000 genomes]
rs67286117	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs67323263	0.84[EUR][1000 genomes]
rs67453660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67960481	0.90[EUR][1000 genomes]
rs72831488	0.83[EUR][1000 genomes]
rs72831489	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72843721	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127290200-127295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:127290800-127295600	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:127292400-127295800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:127293200-127295600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:127293400-127295600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:127294000-127294800	Enhancers	Fetal Brain Male	brain

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