Variant report

Variant	rs4447249
Chromosome Location	chr12:47208498-47208499
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:15)

rs_ID	r²[population]
rs10161209	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10437941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183619	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]
rs12300935	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12424453	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097332	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4482114	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587804	0.86[YRI][hapmap]
rs73283958	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283960	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954772	0.86[YRI][hapmap]
rs7963399	0.86[YRI][hapmap]
rs7967842	0.86[YRI][hapmap]
rs7968752	0.85[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47187800-47209400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:47203200-47213200	Enhancers	Liver	Liver
3	chr12:47203400-47210800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:47203600-47209400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:47204800-47209000	Enhancers	HepG2	liver
6	chr12:47206200-47209200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:47206200-47209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:47208000-47208800	Flanking Active TSS	Thymus	Thymus
9	chr12:47208000-47210800	Enhancers	Fetal Lung	lung
10	chr12:47208200-47208600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:47208400-47208600	Enhancers	Fetal Thymus	thymus
12	chr12:47208400-47208800	Enhancers	Fetal Kidney	kidney

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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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