Variant report

Variant	rs12994449
Chromosome Location	chr2:49055686-49055687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs12986921	0.82[EUR][1000 genomes]
rs12987006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988380	0.82[EUR][1000 genomes]
rs12988554	0.82[EUR][1000 genomes]
rs12991639	0.82[EUR][1000 genomes]
rs12991812	0.82[EUR][1000 genomes]
rs12993218	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993342	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12993350	0.82[EUR][1000 genomes]
rs12998973	0.82[EUR][1000 genomes]
rs12999088	0.82[EUR][1000 genomes]
rs13000493	0.82[EUR][1000 genomes]
rs13000963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13000979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13001380	0.84[EUR][1000 genomes]
rs13003416	0.82[EUR][1000 genomes]
rs13006849	0.82[EUR][1000 genomes]
rs13012154	0.80[EUR][1000 genomes]
rs13013520	0.82[EUR][1000 genomes]
rs13026051	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13026368	0.82[EUR][1000 genomes]
rs13026374	0.82[EUR][1000 genomes]
rs13033968	0.82[EUR][1000 genomes]
rs17555938	0.80[EUR][1000 genomes]
rs17556008	0.80[EUR][1000 genomes]
rs34096435	0.82[EUR][1000 genomes]
rs34139125	0.82[EUR][1000 genomes]
rs34177801	0.80[EUR][1000 genomes]
rs34246643	0.82[EUR][1000 genomes]
rs34316068	0.82[EUR][1000 genomes]
rs34375321	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493890	0.82[EUR][1000 genomes]
rs34519361	0.82[EUR][1000 genomes]
rs34583302	0.82[EUR][1000 genomes]
rs34679037	0.80[EUR][1000 genomes]
rs34747271	0.82[EUR][1000 genomes]
rs34790546	0.80[EUR][1000 genomes]
rs34840154	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34841582	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34851917	0.82[EUR][1000 genomes]
rs34912705	0.82[EUR][1000 genomes]
rs35031960	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35093053	0.82[EUR][1000 genomes]
rs35323371	0.80[EUR][1000 genomes]
rs35625756	0.82[EUR][1000 genomes]
rs35775057	0.82[EUR][1000 genomes]
rs35891136	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35935449	0.82[EUR][1000 genomes]
rs35944620	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35975792	0.82[EUR][1000 genomes]
rs35988365	0.82[EUR][1000 genomes]
rs35989613	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36028906	0.80[EUR][1000 genomes]
rs36098594	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3935550	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4295062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4477968	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4539840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59605770	0.82[EUR][1000 genomes]
rs62137366	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62137386	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137390	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137393	0.83[AFR][1000 genomes]
rs62137394	0.83[AFR][1000 genomes]
rs62137396	0.83[AFR][1000 genomes]
rs62137397	0.83[AFR][1000 genomes]
rs62137398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62137399	0.83[AFR][1000 genomes]
rs62137441	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66479668	0.80[EUR][1000 genomes]
rs66524960	0.82[EUR][1000 genomes]
rs66593338	0.82[EUR][1000 genomes]
rs66709862	0.82[EUR][1000 genomes]
rs66713554	0.82[EUR][1000 genomes]
rs67198598	0.82[EUR][1000 genomes]
rs67386139	0.82[EUR][1000 genomes]
rs67412822	0.82[EUR][1000 genomes]
rs67476091	0.82[EUR][1000 genomes]
rs71407521	0.82[EUR][1000 genomes]
rs71407527	0.82[EUR][1000 genomes]
rs71407528	0.82[EUR][1000 genomes]
rs71407529	0.82[EUR][1000 genomes]
rs71407530	0.82[EUR][1000 genomes]
rs71407531	0.80[EUR][1000 genomes]
rs72811839	0.82[EUR][1000 genomes]
rs72811841	0.82[EUR][1000 genomes]
rs72811843	0.82[EUR][1000 genomes]
rs72811844	0.82[EUR][1000 genomes]
rs72811874	0.82[EUR][1000 genomes]
rs72811886	0.82[EUR][1000 genomes]
rs72823291	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1011157	chr2:49041121-49061439	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1008459	chr2:49041121-49062097	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49055200-49056000	Enhancers	NH-A	brain
3	chr2:49055200-49056400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:49055200-49056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:49055400-49056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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