Variant report

Variant	rs12675420
Chromosome Location	chr8:62924308-62924309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12679959	1.00[ASN][1000 genomes]
rs12680420	0.87[ASN][1000 genomes]
rs16928198	0.98[ASN][1000 genomes]
rs16928365	0.86[ASN][1000 genomes]
rs1829193	0.91[ASN][1000 genomes]
rs1914307	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1914308	0.91[ASN][1000 genomes]
rs58124098	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58525389	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[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	nsv890951	chr8:62889169-62989464	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv890952	chr8:62898648-62989464	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890953	chr8:62899559-62989464	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv890954	chr8:62919691-63023132	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890955	chr8:62919691-63062581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:62922600-62924800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:62923000-62924400	Enhancers	HSMM	muscle
3	chr8:62923000-62924600	Enhancers	NH-A	brain
4	chr8:62923000-62925000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:62923200-62924400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62923200-62924600	Enhancers	Hela-S3	cervix
7	chr8:62923400-62928000	Weak transcription	Gastric	stomach
8	chr8:62923800-62925000	Enhancers	Fetal Brain Male	brain
9	chr8:62923800-62926200	Weak transcription	Brain Germinal Matrix	brain
10	chr8:62924000-62924400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:62924000-62924600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:62924000-62926200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:62924200-62924400	Enhancers	Fetal Brain Female	brain
14	chr8:62924200-62924600	Enhancers	A549	lung

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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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