Variant report

Variant	rs4569081
Chromosome Location	chr12:47203409-47203410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10748455	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785645	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs11183626	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2465589	0.83[AMR][1000 genomes]
rs2465592	0.84[AMR][1000 genomes]
rs2465603	0.84[AMR][1000 genomes]
rs2465631	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2715785	0.84[AMR][1000 genomes]
rs4323984	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4340151	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4497488	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4516050	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4533116	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4627160	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489259	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7955552	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7959916	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7974393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47187800-47209400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:47197600-47205000	Weak transcription	Psoas Muscle	Psoas
3	chr12:47201800-47203800	Enhancers	HepG2	liver
4	chr12:47202800-47203600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:47203000-47203600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:47203000-47203600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:47203000-47204000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:47203200-47213200	Enhancers	Liver	Liver
9	chr12:47203400-47205000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:47203400-47210800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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