Variant report

Variant	rs72680285
Chromosome Location	chr8:113900728-113900729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10106945	0.87[ASN][1000 genomes]
rs10216505	0.87[ASN][1000 genomes]
rs12334432	0.87[ASN][1000 genomes]
rs1991136	0.87[ASN][1000 genomes]
rs1991137	0.87[ASN][1000 genomes]
rs2113666	0.85[ASN][1000 genomes]
rs231279	0.85[ASN][1000 genomes]
rs231281	0.87[ASN][1000 genomes]
rs231286	0.87[ASN][1000 genomes]
rs2432742	0.87[ASN][1000 genomes]
rs2446470	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2446471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61584754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999481	0.87[ASN][1000 genomes]
rs7817596	0.87[ASN][1000 genomes]
rs7817836	0.87[ASN][1000 genomes]
rs9297480	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv891327	chr8:113828980-114109342	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113895400-113904800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:113896800-113905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:113897000-113904800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:113897200-113904800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:113897400-113901600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:113897400-113905000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:113900000-113901400	Enhancers	Brain Germinal Matrix	brain
8	chr8:113900200-113900800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:113900200-113901200	Enhancers	Hela-S3	cervix
10	chr8:113900200-113902600	Enhancers	HMEC	breast
11	chr8:113900400-113900800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:113900400-113900800	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:113900600-113901200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:113900600-113902600	Enhancers	NHEK	skin

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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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