Variant report

Variant	rs12995266
Chromosome Location	chr2:125935416-125935417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12992489	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993585	0.90[AMR][1000 genomes]
rs13014302	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13024027	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13024249	0.86[AMR][1000 genomes]
rs13025135	0.90[AMR][1000 genomes]
rs13025656	0.86[AMR][1000 genomes]
rs13033685	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17629296	0.86[AMR][1000 genomes]
rs2421353	0.90[AMR][1000 genomes]
rs34099871	0.86[AMR][1000 genomes]
rs34250117	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34308133	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34321799	0.86[AMR][1000 genomes]
rs34321922	0.86[AMR][1000 genomes]
rs34495630	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34528547	0.90[AMR][1000 genomes]
rs34693807	0.86[AMR][1000 genomes]
rs34870179	0.86[AMR][1000 genomes]
rs34961659	0.86[AMR][1000 genomes]
rs35120173	0.90[AMR][1000 genomes]
rs35318750	0.86[AMR][1000 genomes]
rs35355440	0.86[AMR][1000 genomes]
rs35364524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35614087	0.90[AMR][1000 genomes]
rs35636983	0.90[AMR][1000 genomes]
rs35878249	0.86[AMR][1000 genomes]
rs36108797	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36138820	0.90[AMR][1000 genomes]
rs71428166	0.90[AMR][1000 genomes]
rs71428174	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71428188	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71428189	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71428190	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71428193	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431646	chr2:125780602-126174341	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874992	chr2:125817682-126046421	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv2903	chr2:125891467-125936267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv999840	chr2:125902993-126683646	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1012762	chr2:125902993-126755660	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv535915	chr2:125902993-126755660	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1001555	chr2:125904415-126630781	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv535916	chr2:125904415-126630781	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv963881	chr2:125930176-125939639	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125933600-125943400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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