Variant report

Variant	rs7579066
Chromosome Location	chr2:78984570-78984571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11126682	0.87[EUR][1000 genomes]
rs11676099	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11690283	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11886800	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11902387	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11902428	0.90[EUR][1000 genomes]
rs12620510	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12620592	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12622478	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1452044	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17015607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17015611	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17015634	0.87[EUR][1000 genomes]
rs2167558	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57943624	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58039460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59504369	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6720391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6723382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737219	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6737473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739221	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6739558	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6739900	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6746125	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6751040	0.86[ASN][1000 genomes]
rs6754548	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72921874	0.87[EUR][1000 genomes]
rs72923747	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72923748	0.86[ASN][1000 genomes]
rs72923749	0.86[ASN][1000 genomes]
rs73943257	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73943258	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73943259	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73943260	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73943261	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73945086	0.82[EUR][1000 genomes]
rs7605836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014232	chr2:78413760-79034119	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535788	chr2:78413760-79034119	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916498	chr2:78429997-79340383	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3584761	chr2:78545020-79430628	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998961	chr2:78574081-79150087	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv428052	chr2:78615333-79075603	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv874370	chr2:78668935-79013457	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2755345	chr2:78857845-79045945	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv874373	chr2:78914837-79010908	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv3518771	chr2:78970346-78994041	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv3518772	chr2:78970346-78994041	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78981400-78984600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:78983400-78984600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:78983600-78985200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:78983600-78987000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:78984200-78985400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:78984400-78985000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr2:78984400-78985200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:78984400-78985200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:78984400-78985200	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:78984400-78986200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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