Variant report

Variant	rs72836307
Chromosome Location	chr2:111776154-111776155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11687123	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12472985	0.91[EUR][1000 genomes]
rs13012948	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13025923	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17041761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976055	0.89[ASN][1000 genomes]
rs35816855	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3789087	0.88[ASN][1000 genomes]
rs3789088	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3789098	0.91[EUR][1000 genomes]
rs56068469	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59554295	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72834597	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569167	0.91[EUR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111770200-111786600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111772200-111777200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:111772800-111780200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:111774600-111776200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:111775200-111786400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:111775200-111787800	Weak transcription	Spleen	Spleen
7	chr2:111775800-111776200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr2:111776000-111776400	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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