Variant report

Variant	rs57243979
Chromosome Location	chr2:40908128-40908129
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1003616	0.86[EUR][1000 genomes]
rs1003617	0.86[EUR][1000 genomes]
rs10048831	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1009356	0.86[EUR][1000 genomes]
rs10490260	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490261	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124753	0.88[EUR][1000 genomes]
rs1116005	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12463635	0.88[EUR][1000 genomes]
rs12466363	0.86[EUR][1000 genomes]
rs12466428	0.90[AFR][1000 genomes]
rs12466466	0.86[EUR][1000 genomes]
rs12469295	0.90[AFR][1000 genomes]
rs12474038	0.82[EUR][1000 genomes]
rs12474457	0.81[EUR][1000 genomes]
rs12474560	0.81[EUR][1000 genomes]
rs12474649	0.92[EUR][1000 genomes]
rs12477533	0.87[EUR][1000 genomes]
rs13422403	0.89[EUR][1000 genomes]
rs17026449	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17026478	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17026493	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17026498	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17026547	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17039019	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17479653	0.93[EUR][1000 genomes]
rs1861302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1861303	0.95[ASN][1000 genomes]
rs2192819	0.82[AFR][1000 genomes]
rs2192820	0.84[AFR][1000 genomes]
rs2216044	0.81[EUR][1000 genomes]
rs2216045	0.88[EUR][1000 genomes]
rs2888698	0.80[EUR][1000 genomes]
rs34359856	0.81[EUR][1000 genomes]
rs3851315	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3851316	0.87[EUR][1000 genomes]
rs42786	0.82[EUR][1000 genomes]
rs42789	0.83[EUR][1000 genomes]
rs4387847	0.83[EUR][1000 genomes]
rs4952640	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55670471	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs55690670	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55772101	0.81[EUR][1000 genomes]
rs55878022	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56121667	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56321003	0.95[EUR][1000 genomes]
rs56336113	0.81[EUR][1000 genomes]
rs56342806	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs57625048	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57950795	0.86[EUR][1000 genomes]
rs62139477	0.94[EUR][1000 genomes]
rs62139487	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62139540	0.91[AFR][1000 genomes]
rs6720960	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6721900	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6755751	0.88[EUR][1000 genomes]
rs7563807	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7584710	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs888021	0.94[EUR][1000 genomes]
rs983123	0.83[AFR][1000 genomes];0.88[EUR][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	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873924	chr2:40835285-40926138	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv873925	chr2:40835285-40966719	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv873926	chr2:40835285-40986860	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873931	chr2:40869165-40966719	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv873932	chr2:40880043-40912597	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv456441	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv581514	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv456452	chr2:40890416-40989061	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv581515	chr2:40890416-40989061	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40905400-40917200	Weak transcription	Aorta	Aorta
2	chr2:40907000-40908200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:40907000-40908200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:40907400-40908200	Active TSS	Primary monocytes fromperipheralblood	blood
5	chr2:40907600-40908200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:40908000-40908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:40908000-40908200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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