Variant report

Variant	rs10087312
Chromosome Location	chr8:117815078-117815079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10105870	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10112726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505289	1.00[CEU][hapmap];0.94[GIH][hapmap];0.98[EUR][1000 genomes]
rs1133950	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs16888613	0.91[CEU][hapmap]
rs16888720	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs28554010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4492407	0.81[EUR][1000 genomes]
rs59540933	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60927118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67123278	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs921066	1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[MKK][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1027259	chr8:117790928-117842055	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034015	chr8:117790928-117843979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10087312	C8orf53	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
2	chr8:117812400-117815800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:117812600-117815400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:117812600-117815600	Enhancers	Fetal Heart	heart
5	chr8:117813000-117816800	Enhancers	Placenta	Placenta
6	chr8:117813800-117818000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:117814400-117815600	Enhancers	HSMMtube	muscle
8	chr8:117814600-117815400	Enhancers	HSMM	muscle
9	chr8:117814600-117815600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:117814800-117815200	Enhancers	NH-A	brain
11	chr8:117814800-117815400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:117814800-117815400	Enhancers	Psoas Muscle	Psoas
13	chr8:117814800-117815600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:117814800-117815600	Enhancers	Fetal Lung	lung
15	chr8:117814800-117815600	Enhancers	Left Ventricle	heart
16	chr8:117814800-117815600	Enhancers	Right Ventricle	heart
17	chr8:117814800-117815800	Enhancers	Fetal Muscle Leg	muscle
18	chr8:117815000-117815400	Enhancers	Osteobl	bone
19	chr8:117815000-117815600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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