Variant report

Variant	rs17689012
Chromosome Location	chr2:126728541-126728542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10173067	0.98[ASN][1000 genomes]
rs11693289	0.84[EUR][1000 genomes]
rs1350061	0.99[ASN][1000 genomes]
rs1350062	0.99[ASN][1000 genomes]
rs1563338	0.99[ASN][1000 genomes]
rs17013250	1.00[ASN][1000 genomes]
rs17013251	1.00[ASN][1000 genomes]
rs17013254	1.00[ASN][1000 genomes]
rs1869745	0.84[EUR][1000 genomes]
rs1902240	0.99[ASN][1000 genomes]
rs55649616	0.84[EUR][1000 genomes]
rs55748091	0.84[EUR][1000 genomes]
rs56094082	0.82[EUR][1000 genomes]
rs56119302	0.84[EUR][1000 genomes]
rs56155371	0.84[EUR][1000 genomes]
rs56211536	0.84[EUR][1000 genomes]
rs56217723	0.84[EUR][1000 genomes]
rs6713421	1.00[ASN][1000 genomes]
rs72845326	0.84[EUR][1000 genomes]
rs72845328	0.84[EUR][1000 genomes]
rs72845329	0.84[EUR][1000 genomes]
rs72845330	0.84[EUR][1000 genomes]
rs72845332	0.84[EUR][1000 genomes]
rs72845333	0.84[EUR][1000 genomes]
rs72845335	0.84[EUR][1000 genomes]
rs72845336	0.84[EUR][1000 genomes]
rs72845337	0.82[EUR][1000 genomes]
rs72845341	0.82[EUR][1000 genomes]
rs72845345	0.84[EUR][1000 genomes]
rs72845348	0.84[EUR][1000 genomes]
rs72845351	0.84[EUR][1000 genomes]
rs72845355	0.84[EUR][1000 genomes]
rs72845358	0.83[EUR][1000 genomes]
rs72845359	0.84[EUR][1000 genomes]
rs72845370	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv960984	chr2:126727835-126729741	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126726000-126728800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:126726200-126728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:126728200-126729600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:126728200-126730000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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