Variant report

Variant	rs12996594
Chromosome Location	chr2:127233114-127233115
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	chr2:127219083..127220899-chr2:127231982..127233485,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11674285	0.86[EUR][1000 genomes]
rs11677531	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11681865	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11682924	1.00[AFR][1000 genomes]
rs11684235	1.00[AFR][1000 genomes]
rs11684739	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11684984	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[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	0.86[EUR][1000 genomes]
rs11904079	0.86[EUR][1000 genomes]
rs12990019	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12990559	1.00[AFR][1000 genomes]
rs12993851	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12996629	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12999041	1.00[AFR][1000 genomes]
rs13000835	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13002409	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13002851	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13003278	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13005708	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13008004	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13008398	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13010045	1.00[AFR][1000 genomes]
rs13020525	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13020607	1.00[AFR][1000 genomes]
rs13023737	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13024070	0.86[EUR][1000 genomes]
rs13025129	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13027486	1.00[AFR][1000 genomes]
rs13033014	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13034200	1.00[AFR][1000 genomes]
rs13034238	1.00[AFR][1000 genomes]
rs13035307	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13036140	1.00[AFR][1000 genomes]
rs1371627	0.86[EUR][1000 genomes]
rs1387284	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17281203	1.00[AFR][1000 genomes]
rs17677529	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs34228135	1.00[AFR][1000 genomes]
rs34548924	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34653086	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34662457	0.86[EUR][1000 genomes]
rs34690725	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34731630	1.00[AFR][1000 genomes]
rs34875932	1.00[AFR][1000 genomes]
rs34939949	1.00[AFR][1000 genomes]
rs34971908	1.00[AFR][1000 genomes]
rs34981967	1.00[AFR][1000 genomes]
rs35012492	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35260231	0.86[EUR][1000 genomes]
rs35338260	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35364068	0.86[EUR][1000 genomes]
rs35371374	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35384854	0.86[EUR][1000 genomes]
rs35432246	1.00[AFR][1000 genomes]
rs35453044	0.86[EUR][1000 genomes]
rs35506144	1.00[AFR][1000 genomes]
rs35683961	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35703634	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35901702	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35944462	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35976822	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36061035	1.00[AFR][1000 genomes]
rs36109238	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55733801	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56049721	0.86[EUR][1000 genomes]
rs56072540	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56100722	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56332215	0.90[AMR][1000 genomes];0.94[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];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67155347	1.00[AFR][1000 genomes]
rs67271291	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67286117	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67292864	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67323263	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67453660	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67960481	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72831488	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72831489	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72843721	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv997962	chr2:126464195-127234384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	esv3425744	chr2:127231632-127233780	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127232800-127233200	Enhancers	Fetal Brain Male	brain
2	chr2:127232800-127233400	Enhancers	Fetal Heart	heart

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