Variant report

Variant	rs60706278
Chromosome Location	chr3:24101424-24101425
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11129139	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12490512	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12491272	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12492765	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12498129	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17014085	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4416338	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4505633	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4858576	0.81[EUR][1000 genomes]
rs55920816	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57144868	0.87[EUR][1000 genomes]
rs57903454	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58523227	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59374114	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59461522	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59715267	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59911620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60056719	0.81[EUR][1000 genomes]
rs60635484	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61287579	0.88[AFR][1000 genomes]
rs61544225	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62253424	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62253427	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62255803	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62255804	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6769284	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6769403	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6807599	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73134512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7428009	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7623348	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7636932	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826371	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826372	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826373	0.89[EUR][1000 genomes]
rs826374	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826375	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834639	chr3:24037113-24233925	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1004037	chr3:24064777-24143719	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3394687	chr3:24101146-24101496	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24100200-24102200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:24100400-24102000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr3:24100600-24102000	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:24100800-24101800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:24100800-24102000	Enhancers	Rectal Smooth Muscle	rectum
6	chr3:24100800-24102200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:24100800-24102200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:24100800-24102200	Enhancers	HMEC	breast
9	chr3:24100800-24102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:24101000-24101800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:24101000-24101800	Enhancers	Left Ventricle	heart
12	chr3:24101000-24101800	Enhancers	Ovary	ovary
13	chr3:24101000-24102000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr3:24101000-24102200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:24101000-24102200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:24101000-24102200	Enhancers	Colon Smooth Muscle	Colon
17	chr3:24101000-24102200	Enhancers	NHDF-Ad	bronchial
18	chr3:24101400-24101600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:24101400-24101600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:24101400-24101800	Flanking Active TSS	NHEK	skin
21	chr3:24101400-24102000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:24101400-24102000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:24101400-24102200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:24101400-24102200	Enhancers	NHLF	lung
25	chr3:24101400-24119200	Weak transcription	Aorta	Aorta

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