Variant report

Variant	rs74056145
Chromosome Location	chr12:4951921-4951922
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:12)

rs_ID	r²[population]
rs11614374	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831080	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16931738	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931772	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931774	1.00[ASN][1000 genomes]
rs17177689	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784177	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936059	1.00[ASN][1000 genomes]
rs73048603	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956904	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960689	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv520570	chr12:4929787-4954591	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1047238	chr12:4929787-4955435	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:4935800-4965000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:4938600-4960200	Weak transcription	Fetal Brain Female	brain
5	chr12:4939200-4959400	Weak transcription	Brain Germinal Matrix	brain
6	chr12:4939600-4966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:4943000-4966800	Weak transcription	Fetal Brain Male	brain
8	chr12:4948200-4960200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:4948400-4960000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:4948400-4966800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:4951400-4952200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr12:4951600-4957000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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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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