Variant report

Variant	rs4627160
Chromosome Location	chr12:47208365-47208366
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[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785645	0.83[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]
rs2715785	0.84[AMR][1000 genomes]
rs4323984	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4340151	0.95[CEU][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];0.81[EUR][1000 genomes]
rs4533116	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4569081	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	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7955552	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7959916	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7974393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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:11 , 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	chr12:47207600-47208400	Active TSS	Fetal Thymus	thymus
9	chr12:47208000-47208800	Flanking Active TSS	Thymus	Thymus
10	chr12:47208000-47210800	Enhancers	Fetal Lung	lung
11	chr12:47208200-47208600	Active TSS	Pancreatic Islets	Pancreatic Islet

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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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