Variant report

Variant	rs11183619
Chromosome Location	chr12:47211066-47211067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10437941	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183618	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12300935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305532	0.82[ASN][1000 genomes]
rs12318924	0.82[ASN][1000 genomes]
rs12321267	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12424453	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12581848	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1860372	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3862137	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4447249	1.00[ASW][hapmap];0.87[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4482114	0.81[CEU][hapmap]
rs4587804	0.86[YRI][hapmap]
rs73283960	0.81[EUR][1000 genomes]
rs7954772	0.86[YRI][hapmap]
rs7963399	0.86[YRI][hapmap]
rs7967842	0.86[YRI][hapmap]
rs7968752	0.86[YRI][hapmap]
rs7974413	0.82[YRI][hapmap]

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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47203200-47213200	Enhancers	Liver	Liver
2	chr12:47209600-47212000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:47209600-47217600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:47209800-47211400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:47210000-47216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:47210800-47211400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:47210800-47212600	Weak transcription	Fetal Lung	lung

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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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