Variant report

Variant	rs12056317
Chromosome Location	chr8:124651963-124651964
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]
rs10505438	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10505439	1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10956143	0.84[JPT][hapmap]
rs16898668	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16898685	0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs16898686	0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs16898687	0.92[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs16898689	0.92[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs16898691	0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs4367519	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs57196906	0.86[ASN][1000 genomes]
rs58763139	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62518569	0.81[ASN][1000 genomes]
rs66970129	0.85[ASN][1000 genomes]
rs72711231	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9642868	0.89[EUR][1000 genomes];0.89[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124646000-124655800	Weak transcription	Osteobl	bone
2	chr8:124648000-124652600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:124648200-124652200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:124648800-124656000	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:124650200-124655600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:124650800-124652400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:124650800-124652400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:124651400-124653600	Enhancers	Ovary	ovary
9	chr8:124651600-124653200	Enhancers	Right Atrium	heart
10	chr8:124651800-124652400	Enhancers	Stomach Smooth Muscle	stomach
11	chr8:124651800-124653000	Enhancers	Aorta	Aorta
12	chr8:124651800-124653000	Enhancers	Right Ventricle	heart
13	chr8:124651800-124653200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:124651800-124653200	Enhancers	Psoas Muscle	Psoas
15	chr8:124651800-124653600	Enhancers	Colon Smooth Muscle	Colon
16	chr8:124651800-124653600	Enhancers	Fetal Heart	heart
17	chr8:124651800-124653600	Enhancers	Left Ventricle	heart

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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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