Variant report

Variant	rs17015611
Chromosome Location	chr2:78993766-78993767
allele	C/T
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	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11676099	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11690283	0.87[EUR][1000 genomes]
rs11886800	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11902387	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11902428	0.86[EUR][1000 genomes]
rs12620510	0.89[EUR][1000 genomes]
rs12620592	0.89[EUR][1000 genomes]
rs12622478	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1452044	0.89[EUR][1000 genomes]
rs17015607	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015634	0.83[EUR][1000 genomes]
rs2167558	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57943624	0.86[EUR][1000 genomes]
rs58039460	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59504369	0.89[EUR][1000 genomes]
rs6720391	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723382	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737219	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6737473	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6739221	0.87[EUR][1000 genomes]
rs6739558	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6739900	0.87[EUR][1000 genomes]
rs6746125	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6751040	0.88[ASN][1000 genomes]
rs6754548	0.86[EUR][1000 genomes]
rs72921874	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72923747	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72923748	0.88[ASN][1000 genomes]
rs72923749	0.88[ASN][1000 genomes]
rs73943257	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73943258	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73943259	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73943260	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73943261	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73945086	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7579066	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605836	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78993000-78993800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:78993000-78995000	Enhancers	Brain Hippocampus Middle	brain
3	chr2:78993200-78993800	Enhancers	Brain Angular Gyrus	brain
4	chr2:78993200-78994800	Enhancers	Brain Substantia Nigra	brain
5	chr2:78993200-78995400	Enhancers	Colon Smooth Muscle	Colon
6	chr2:78993200-78995600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:78993200-78995800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:78993400-78994200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:78993400-78995400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:78993400-78995600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:78993400-78995600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:78993600-78993800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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