Variant report

Variant	rs6489570
Chromosome Location	chr12:4941643-4941644
allele	A/G
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:16)

rs_ID	r²[population]
rs10849146	0.81[EUR][1000 genomes]
rs10849147	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10849149	0.81[AMR][1000 genomes]
rs11063358	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11063359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099448	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17702562	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61907144	0.81[AMR][1000 genomes]
rs61908768	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310191	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7313593	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963542	0.81[EUR][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:15 , 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	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
4	chr12:4934000-4942400	Weak transcription	HSMM	muscle
5	chr12:4935800-4965000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:4938600-4960200	Weak transcription	Fetal Brain Female	brain
7	chr12:4939000-4941800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:4939200-4943000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:4939200-4959400	Weak transcription	Brain Germinal Matrix	brain
10	chr12:4939600-4942400	Weak transcription	HSMMtube	muscle
11	chr12:4939600-4966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:4940400-4942200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:4940400-4942400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:4940800-4948600	Weak transcription	Fetal Stomach	stomach
15	chr12:4941400-4942400	Weak transcription	Primary B cells from cord blood	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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