Variant report

Variant	rs67425923
Chromosome Location	chr3:50569152-50569153
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50566678..50573015-chr3:50574866..50578180,7	K562	blood:
2	chr3:50567522..50569700-chr3:50602226..50604974,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1034405	0.84[EUR][1000 genomes]
rs11130252	0.84[AMR][1000 genomes]
rs11719998	0.81[EUR][1000 genomes]
rs12491425	0.80[EUR][1000 genomes]
rs13076850	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13083004	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13084476	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13091933	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13094336	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17787569	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs201194	0.82[EUR][1000 genomes]
rs201196	0.84[EUR][1000 genomes]
rs201198	0.84[EUR][1000 genomes]
rs2227280	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2232253	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2269507	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2355321	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34202063	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34267788	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34399912	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34434811	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34584636	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34756253	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34889917	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35655236	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35690191	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35714264	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35864641	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35908181	0.85[ASN][1000 genomes]
rs391620	0.81[EUR][1000 genomes]
rs398703	0.80[EUR][1000 genomes]
rs399484	0.82[EUR][1000 genomes]
rs4533647	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs490634	0.81[EUR][1000 genomes]
rs59949730	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67588094	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67813889	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6784166	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6787521	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71326937	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73082948	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs750453	0.81[EUR][1000 genomes]
rs7652260	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50558800-50570600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:50566800-50569200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr3:50567400-50569200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:50567600-50574400	Weak transcription	Spleen	Spleen
5	chr3:50568200-50569800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:50568200-50570400	Weak transcription	Brain Germinal Matrix	brain
7	chr3:50568600-50569400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:50568600-50570200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:50568800-50570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:50569000-50570000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:50569000-50570200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:50569000-50570600	Enhancers	Placenta	Placenta

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