Variant report

Variant	rs72714255
Chromosome Location	chr8:130489370-130489371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1108353	0.82[EUR][1000 genomes]
rs16904080	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16904084	0.83[EUR][1000 genomes]
rs17262815	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1897449	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017455	0.82[EUR][1000 genomes]
rs61684115	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67674260	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714249	0.90[EUR][1000 genomes]
rs72714253	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714268	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73391885	0.82[EUR][1000 genomes]
rs736863	0.83[EUR][1000 genomes]
rs755958	0.82[EUR][1000 genomes]
rs919702	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130475800-130492000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130485600-130491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:130487800-130494800	Genic enhancers	K562	blood
4	chr8:130488000-130489400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:130488000-130489400	Enhancers	Dnd41	blood
6	chr8:130488000-130492600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:130488200-130491600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:130488400-130491400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:130488400-130491800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:130488800-130491600	Weak transcription	Fetal Stomach	stomach
11	chr8:130489000-130490200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:130489000-130490400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:130489000-130490400	Enhancers	Osteobl	bone
14	chr8:130489000-130490600	Enhancers	NH-A	brain
15	chr8:130489200-130489600	Enhancers	Fetal Intestine Large	intestine
16	chr8:130489200-130490000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:130489200-130490000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:130489200-130490200	Enhancers	HMEC	breast

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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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