Variant report

Variant	rs12711720
Chromosome Location	chr2:126717696-126717697
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10172870	1.00[ASN][1000 genomes]
rs11681254	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12711719	1.00[ASN][1000 genomes]
rs12711721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711723	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12711724	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12711725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996566	1.00[ASN][1000 genomes]
rs13009198	1.00[ASN][1000 genomes]
rs13031592	1.00[ASN][1000 genomes]
rs13389529	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563337	1.00[ASN][1000 genomes]
rs1563338	0.82[EUR][1000 genomes]
rs17013274	1.00[ASN][1000 genomes]
rs36061842	1.00[ASN][1000 genomes]
rs716228	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs716229	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs730250	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs874770	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126715400-126717800	Enhancers	Fetal Heart	heart
2	chr2:126716200-126718000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:126716200-126718000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:126716400-126717800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr2:126716400-126717800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr2:126716600-126717800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:126716600-126717800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr2:126716600-126717800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr2:126717000-126717800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:126717600-126717800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr2:126717600-126719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:126717600-126721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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