Variant report

Variant	rs74077823
Chromosome Location	chr12:41929779-41929780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11180918	0.81[ASN][1000 genomes]
rs169564	0.97[ASN][1000 genomes]
rs2599254	0.97[ASN][1000 genomes]
rs2730812	0.97[ASN][1000 genomes]
rs2730831	0.97[ASN][1000 genomes]
rs2730832	0.97[ASN][1000 genomes]
rs285551	0.97[ASN][1000 genomes]
rs285559	0.97[ASN][1000 genomes]
rs285588	0.97[ASN][1000 genomes]
rs285594	0.97[ASN][1000 genomes]
rs285596	0.97[ASN][1000 genomes]
rs285597	0.97[ASN][1000 genomes]
rs287087	0.97[ASN][1000 genomes]
rs392217	0.97[ASN][1000 genomes]
rs61548934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41925600-41949800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:41925800-41944800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:41928800-41929800	Weak transcription	Fetal Lung	lung
4	chr12:41929400-41933000	Weak transcription	hESC Derived CD184+ Endoderm 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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