Variant report

Variant	rs17122979
Chromosome Location	chr12:48813697-48813698
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:18)

rs_ID	r²[population]
rs10783256	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875804	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168576	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12231229	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298871	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12300672	0.87[ASN][1000 genomes]
rs12303419	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12321745	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2251773	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2468942	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2705123	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2705126	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2705141	0.87[ASN][1000 genomes]
rs2731073	0.87[ASN][1000 genomes]
rs2731101	0.93[ASN][1000 genomes]
rs4489787	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580673	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580674	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48808600-48813800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:48808800-48813800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:48808800-48816000	Weak transcription	Ovary	ovary
4	chr12:48812800-48814000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:48812800-48814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:48812800-48814600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:48813000-48814200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:48813200-48813800	Enhancers	Adipose Nuclei	Adipose
9	chr12:48813200-48814600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr12:48813200-48814800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:48813200-48815200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr12:48813400-48814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:48813400-48814200	Enhancers	Fetal Lung	lung
14	chr12:48813400-48814400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:48813600-48814200	Enhancers	iPS-20b 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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