Variant report

Variant	rs56217723
Chromosome Location	chr2:126715557-126715558
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11677894	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11690490	0.86[EUR][1000 genomes]
rs11693289	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17688270	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17689012	0.84[EUR][1000 genomes]
rs1869745	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649616	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55748091	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55977060	0.84[EUR][1000 genomes]
rs56094082	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56119302	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56155371	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56211536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542029	0.83[EUR][1000 genomes]
rs72845306	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72845307	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72845326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845337	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72845341	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72845345	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845348	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845351	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845355	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845358	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72845359	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845370	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72853517	0.87[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	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
2	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
3	nsv1000070	chr2:126138320-126915275	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv583009	chr2:126662415-126759423	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv834363	chr2:126696445-126887859	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126712400-126716600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:126715200-126717600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:126715400-126715600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr2:126715400-126717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:126715400-126717800	Enhancers	Fetal Heart	heart

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