Variant report

Variant	rs479316
Chromosome Location	chr8:102946714-102946715
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10097554	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs2119225	0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2119226	0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2387332	0.83[ASN][1000 genomes]
rs4734601	0.99[ASN][1000 genomes]
rs484507	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516608	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs573618	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs718262	0.82[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs718263	0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7820497	0.82[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9297315	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs9297316	1.00[ASN][1000 genomes]
rs993639	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs995584	0.85[CEU][hapmap];0.91[JPT][hapmap];0.90[ASN][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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102920600-102956600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102942800-102947200	Enhancers	Fetal Heart	heart
3	chr8:102943400-102948200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:102943400-102948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:102944400-102953600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:102944400-102964000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:102944600-102947800	Weak transcription	Psoas Muscle	Psoas
8	chr8:102944600-102952000	Weak transcription	Ovary	ovary
9	chr8:102945000-102952600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:102946000-102948200	Weak transcription	H1 Derived Neuronal Progenitor 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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