Variant report

Variant	rs12706579
Chromosome Location	chr7:123903268-123903269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1019196	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12706574	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706575	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706576	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706577	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706578	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706580	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706581	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706584	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706585	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13224724	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226695	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227559	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13228061	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231197	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231290	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17383127	1.00[JPT][hapmap]
rs17556666	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17556861	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17637743	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34046481	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34282167	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34614928	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34893553	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078332	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35270290	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35341446	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35507929	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35643956	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35752897	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4427107	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71574787	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71574788	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71574789	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71574790	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808917	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608338	chr7:123787673-124063498	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019824	chr7:123817167-123926854	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1016498	chr7:123829760-123954337	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv539109	chr7:123829760-123954337	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1818748	chr7:123829886-124039708	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv889127	chr7:123869567-123994631	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv889128	chr7:123875796-123930549	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv889129	chr7:123875796-123994631	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv889130	chr7:123875796-124010036	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv889131	chr7:123875796-124037765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv889132	chr7:123883427-124010036	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1817026	chr7:123885477-124039708	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1844271	chr7:123885477-124039708	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1795113	chr7:123885477-124188665	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1845117	chr7:123893808-123936486	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv470389	chr7:123893808-123936486	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:123887200-123903600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:123898200-123907200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:123901000-123905000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:123901200-123904800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:123901200-123905200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:123901400-123904800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:123901400-123905000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:123901400-123905200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:123901800-123903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:123902000-123904600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:123902200-123904800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:123902400-123904200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:123903200-123903800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:123903200-123903800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:123903200-123903800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:123903200-123904400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:123903200-123904600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:123903200-123904800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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