Variant report

Variant	rs56041970
Chromosome Location	chr2:213287742-213287743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10167244	1.00[ASN][1000 genomes]
rs10181082	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188926	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10194540	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197215	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10202760	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383863	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388956	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393577	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400881	1.00[ASN][1000 genomes]
rs13413335	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417523	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394780	1.00[ASN][1000 genomes]
rs6712295	0.92[ASN][1000 genomes]
rs6756468	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1014680	chr2:213142147-213301614	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003694	chr2:213216431-213290523	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763101	chr2:213248318-213290535	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213285400-213288200	Enhancers	NHDF-Ad	bronchial
2	chr2:213286400-213287800	Weak transcription	Brain Anterior Caudate	brain
3	chr2:213286400-213290400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:213287000-213288200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:213287000-213293400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:213287600-213288400	Enhancers	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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