Variant report

Variant	rs34653086
Chromosome Location	chr2:127264187-127264188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11674285	0.90[EUR][1000 genomes]
rs11677531	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11681865	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11684739	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11684984	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11883942	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11904079	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12990019	0.90[EUR][1000 genomes]
rs12993851	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12996594	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12996629	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13000835	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13002409	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13002851	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13003278	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13005708	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13008004	0.88[EUR][1000 genomes]
rs13008398	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13020525	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13023737	0.89[EUR][1000 genomes]
rs13024070	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13025129	0.90[EUR][1000 genomes]
rs13033014	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13035307	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1371627	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1387284	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17677529	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34548924	0.90[EUR][1000 genomes]
rs34662457	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34690725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35012492	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35260231	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35338260	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35364068	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35371374	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35384854	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35453044	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35683961	0.87[EUR][1000 genomes]
rs35703634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35901702	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35944462	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35976822	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36109238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55733801	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56049721	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56072540	0.90[EUR][1000 genomes]
rs56100722	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56332215	0.89[EUR][1000 genomes]
rs66993274	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67271291	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67286117	0.88[EUR][1000 genomes]
rs67292864	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67323263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67453660	0.90[EUR][1000 genomes]
rs67960481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72831488	0.89[EUR][1000 genomes]
rs72831489	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72843721	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][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	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
4	nsv834364	chr2:127100752-127267070	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127255800-127264600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:127261000-127264200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:127263200-127265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:127263800-127265400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:127264000-127265400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:127264000-127265400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:127264000-127265400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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