Variant report

Variant	rs281837
Chromosome Location	chr12:41544828-41544829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10748266	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10748267	0.87[EUR][1000 genomes]
rs10785150	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10785165	0.83[JPT][hapmap];0.87[AMR][1000 genomes]
rs10785177	0.84[MEX][hapmap]
rs10879830	0.85[EUR][1000 genomes]
rs10879831	0.80[EUR][1000 genomes]
rs10879858	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1346905	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1367601	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1367602	0.92[EUR][1000 genomes]
rs1431100	0.84[CEU][hapmap]
rs1431102	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1431103	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1431104	0.92[CEU][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs1431105	0.86[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1431106	0.88[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1431107	0.88[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1431108	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1431109	0.88[CEU][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1431110	0.81[EUR][1000 genomes]
rs1431111	0.84[AMR][1000 genomes]
rs1431113	0.80[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs1431114	0.95[MEX][hapmap]
rs1431116	0.84[AMR][1000 genomes]
rs1461094	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs1527086	0.85[CEU][hapmap];0.81[MEX][hapmap]
rs1852461	0.95[MEX][hapmap]
rs1864611	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1864612	0.88[CEU][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1864613	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1870704	0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs1966609	0.80[CEU][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.84[AMR][1000 genomes]
rs2043134	0.80[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.86[AMR][1000 genomes]
rs2116133	0.82[EUR][1000 genomes]
rs2116134	0.84[EUR][1000 genomes]
rs2116135	0.83[EUR][1000 genomes]
rs2163415	0.91[EUR][1000 genomes]
rs2169299	0.91[EUR][1000 genomes]
rs2405768	0.87[CEU][hapmap];0.85[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2567034	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs281829	0.93[EUR][1000 genomes]
rs281831	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs281832	0.90[EUR][1000 genomes]
rs281839	0.91[EUR][1000 genomes]
rs281840	0.92[EUR][1000 genomes]
rs281841	0.96[EUR][1000 genomes]
rs281843	0.91[EUR][1000 genomes]
rs2897227	0.81[AMR][1000 genomes]
rs3847980	0.92[CEU][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs3847981	0.92[EUR][1000 genomes]
rs3858726	0.92[EUR][1000 genomes]
rs3911712	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768335	0.80[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.87[AMR][1000 genomes]
rs6582240	0.92[CEU][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs7296581	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7301200	0.87[AMR][1000 genomes]
rs7303285	0.92[CEU][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes]
rs7342366	0.91[CEU][hapmap]
rs7487688	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs776560	0.89[EUR][1000 genomes]
rs776561	0.89[EUR][1000 genomes]
rs776562	0.90[EUR][1000 genomes]
rs776567	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7954881	0.88[EUR][1000 genomes]
rs7956699	0.87[AMR][1000 genomes]
rs7963760	0.85[CEU][hapmap]
rs7980599	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs975602	0.85[CEU][hapmap];0.81[MEX][hapmap];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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
6	nsv684	chr12:41499912-41545039	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
7	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs281837	YAF2	cis	parietal	SCAN
rs281837	CNTN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41544800-41545600	Enhancers	A549	lung

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