Variant report

Variant	rs6489575
Chromosome Location	chr12:4943530-4943531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12815495	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821926	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12826294	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931723	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16931724	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17702448	0.94[ASN][1000 genomes]
rs36035339	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489574	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297411	0.94[ASN][1000 genomes]
rs7958711	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971461	0.94[CEU][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972883	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972884	0.90[AMR][1000 genomes];0.83[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6489575	EFCAB4B	cis	parietal	SCAN
rs6489575	DCP1B	cis	cerebellum	SCAN

Chromatin state (count:10 , 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	chr12:4940800-4948600	Weak transcription	Fetal Stomach	stomach
8	chr12:4943000-4947600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:4943000-4951200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:4943000-4966800	Weak transcription	Fetal Brain Male	brain

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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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