Variant report

Variant	rs73143064
Chromosome Location	chr3:100660050-100660051
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100655760..100657703-chr3:100659646..100661767,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13085823	0.90[ASN][1000 genomes]
rs1375512	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449299	1.00[ASN][1000 genomes]
rs1530731	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1579969	0.90[ASN][1000 genomes]
rs16843153	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17339226	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17340282	0.81[ASN][1000 genomes]
rs2713749	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713758	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55687619	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936420	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56077494	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56237429	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57194842	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59476872	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6774218	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787197	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6787878	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141447	0.81[ASN][1000 genomes]
rs73143038	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73143044	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73143061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143072	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144908	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144910	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144915	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144970	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73149160	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7621518	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623956	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625454	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637274	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7641631	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643050	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs959713	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv514163	chr3:100547342-100670846	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100630200-100673600	Weak transcription	Ovary	ovary
2	chr3:100656800-100667000	Weak transcription	Osteobl	bone
3	chr3:100659200-100660800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr3:100659200-100660800	Enhancers	NHEK	skin
5	chr3:100659200-100661000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:100659400-100660600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:100659400-100660600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:100659400-100660800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:100659400-100660800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:100659400-100660800	Enhancers	HMEC	breast
11	chr3:100660000-100660200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:100660000-100660200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:100660000-100660400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr3:100660000-100660400	Active TSS	HSMMtube	muscle
15	chr3:100660000-100660400	Active TSS	NHDF-Ad	bronchial
16	chr3:100660000-100660600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:100660000-100660800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:100660000-100660800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:100660000-100660800	Enhancers	HSMM	muscle

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