Variant report

Variant	rs12604626
Chromosome Location	chr18:11722048-11722049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11080532	0.98[ASN][1000 genomes]
rs12185293	0.89[ASN][1000 genomes]
rs12454230	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12454967	0.99[ASN][1000 genomes]
rs12458309	0.89[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12956538	0.98[ASN][1000 genomes]
rs12958933	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12969002	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12969552	0.98[ASN][1000 genomes]
rs4796934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8090294	0.84[YRI][hapmap]
rs9952417	0.82[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap]
rs9961044	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv978602	chr18:11699589-11729341	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12604626	AFG3L2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11697400-11727000	Weak transcription	Esophagus	oesophagus
2	chr18:11714600-11723400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:11717400-11723600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:11720000-11723400	Weak transcription	Fetal Brain Male	brain
5	chr18:11720200-11723200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:11720600-11723800	Weak transcription	Fetal Brain Female	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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