Variant report

Variant	rs12315536
Chromosome Location	chr12:117988943-117988944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10444498	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068540	1.00[ASN][1000 genomes]
rs61937251	0.85[EUR][1000 genomes]
rs7298508	0.89[EUR][1000 genomes]
rs73405365	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959431	0.89[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117953000-117995600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117957000-117995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:117965200-117995800	Weak transcription	Pancreas	Pancrea
4	chr12:117975000-118018200	Weak transcription	HUVEC	blood vessel
5	chr12:117983600-117992600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:117988600-117989000	Enhancers	hESC Derived CD56+ Ectoderm 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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