Variant report

Variant	rs11684984
Chromosome Location	chr2:127239243-127239244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11674285	0.89[EUR][1000 genomes]
rs11677531	0.89[EUR][1000 genomes]
rs11681865	0.89[EUR][1000 genomes]
rs11682924	1.00[AFR][1000 genomes]
rs11684235	1.00[AFR][1000 genomes]
rs11684739	0.89[EUR][1000 genomes]
rs11688466	1.00[AFR][1000 genomes]
rs11688974	1.00[AFR][1000 genomes]
rs11690602	1.00[AFR][1000 genomes]
rs11691316	1.00[AFR][1000 genomes]
rs11883942	0.89[EUR][1000 genomes]
rs11904079	0.89[EUR][1000 genomes]
rs12990019	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12990559	1.00[AFR][1000 genomes]
rs12993851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12996594	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12996629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12999041	1.00[AFR][1000 genomes]
rs13000835	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13002409	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13002851	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13003278	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13005708	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13008004	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13008398	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13010045	1.00[AFR][1000 genomes]
rs13020525	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13020607	1.00[AFR][1000 genomes]
rs13023737	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13024070	0.89[EUR][1000 genomes]
rs13025129	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13027486	1.00[AFR][1000 genomes]
rs13033014	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13034200	1.00[AFR][1000 genomes]
rs13034238	1.00[AFR][1000 genomes]
rs13035307	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13036140	1.00[AFR][1000 genomes]
rs1371627	0.89[EUR][1000 genomes]
rs1387284	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17281203	1.00[AFR][1000 genomes]
rs17677529	0.89[EUR][1000 genomes]
rs34228135	1.00[AFR][1000 genomes]
rs34548924	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34653086	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34662457	0.89[EUR][1000 genomes]
rs34690725	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34731630	1.00[AFR][1000 genomes]
rs34939949	1.00[AFR][1000 genomes]
rs34981967	1.00[AFR][1000 genomes]
rs35012492	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35260231	0.89[EUR][1000 genomes]
rs35338260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35364068	0.89[EUR][1000 genomes]
rs35371374	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35384854	0.89[EUR][1000 genomes]
rs35432246	1.00[AFR][1000 genomes]
rs35453044	0.89[EUR][1000 genomes]
rs35506144	1.00[AFR][1000 genomes]
rs35683961	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35703634	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35901702	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35944462	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35976822	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36061035	1.00[AFR][1000 genomes]
rs36109238	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55733801	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56049721	0.89[EUR][1000 genomes]
rs56072540	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56100722	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56332215	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66530889	1.00[AFR][1000 genomes]
rs66701958	1.00[AFR][1000 genomes]
rs66815786	1.00[AFR][1000 genomes]
rs66993274	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67155347	1.00[AFR][1000 genomes]
rs67271291	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67286117	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs67292864	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67323263	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67453660	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs67960481	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72831488	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72831489	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72843721	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013181	chr2:126451639-127246965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	nsv534297	chr2:126506966-127245682	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127236400-127240200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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