Variant report

Variant	rs4765294
Chromosome Location	chr12:124611078-124611079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11057457	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2087479	0.83[ASN][1000 genomes]
rs2101531	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34188913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395845	0.83[ASN][1000 genomes]
rs4765062	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902170	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1799776	chr12:124594370-124614538	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124601000-124615200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:124608400-124611600	Weak transcription	Fetal Stomach	stomach
3	chr12:124608400-124614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:124608600-124613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:124608800-124615200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:124608800-124615200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:124609000-124615000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:124609000-124615000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:124609200-124611200	Enhancers	HMEC	breast
10	chr12:124609800-124615600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:124610400-124613200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:124610400-124614400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:124610400-124615000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:124610600-124612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:124610800-124615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:124611000-124611400	Flanking Active TSS	GM12878-XiMat	blood

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

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