Variant report

Variant	rs10193391
Chromosome Location	chr2:86863480-86863481
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10165856	1.00[AMR][1000 genomes]
rs10172656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10177270	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383459	1.00[AFR][1000 genomes]
rs13389805	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397238	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406823	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59335898	1.00[AMR][1000 genomes]
rs6734746	1.00[AMR][1000 genomes]
rs9967788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86860400-86872400	Weak transcription	Placenta	Placenta
2	chr2:86860800-86865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:86861400-86863800	Weak transcription	Stomach Mucosa	stomach
4	chr2:86861400-86864000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:86862200-86863600	Weak transcription	HepG2	liver
6	chr2:86863200-86863600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr2:86863200-86865200	Enhancers	Liver	Liver

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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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