Variant report

Variant	rs776560
Chromosome Location	chr12:41533983-41533984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10748267	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10879831	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10879858	0.92[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10879867	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1367602	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1431100	0.84[CEU][hapmap];0.81[CHB][hapmap]
rs1431104	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1431105	0.82[CEU][hapmap]
rs1431106	0.81[CEU][hapmap]
rs1431107	0.81[CEU][hapmap]
rs1431108	0.82[CEU][hapmap]
rs1431109	0.81[CEU][hapmap]
rs1431110	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1431112	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1461094	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1527086	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1864611	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1864612	0.81[CEU][hapmap]
rs1864613	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2163415	0.87[EUR][1000 genomes]
rs2163416	0.80[CHB][hapmap]
rs2169299	0.87[EUR][1000 genomes]
rs281829	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs281830	0.90[ASN][1000 genomes]
rs281831	0.91[EUR][1000 genomes]
rs281832	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs281837	0.89[EUR][1000 genomes]
rs281839	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs281840	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs281841	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs281843	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3847980	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3847981	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3858726	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768334	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs6582240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7303285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7342366	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs776561	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776562	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776567	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7954881	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7963760	0.92[CEU][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs975602	0.92[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv2760256	chr12:41525540-41542361	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41533400-41534400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:41533400-41534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:41533600-41534200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:41533600-41534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:41533600-41534800	Enhancers	Colon Smooth Muscle	Colon
6	chr12:41533800-41534200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:41533800-41534400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:41533800-41534400	Enhancers	HUVEC	blood vessel
9	chr12:41533800-41536200	Enhancers	Rectal Smooth Muscle	rectum

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