Variant report

Variant	rs4683181
Chromosome Location	chr3:46164820-46164821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46162316..46164554-chr3:46164815..46166918,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1388605	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388606	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388608	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1392293	0.81[EUR][1000 genomes]
rs1491949	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546076	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566419	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809733	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826342	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873616	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133666	0.82[EUR][1000 genomes]
rs2373149	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373152	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373155	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4490404	0.81[EUR][1000 genomes]
rs4493468	0.82[EUR][1000 genomes]
rs4682811	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683158	0.80[EUR][1000 genomes]
rs4683177	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767559	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786959	0.82[EUR][1000 genomes]
rs6807578	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6808712	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902760	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904634	0.81[EUR][1000 genomes]
rs9311388	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820016	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46152600-46165200	Weak transcription	Spleen	Spleen
2	chr3:46156800-46168000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:46157200-46166600	Weak transcription	Psoas Muscle	Psoas
4	chr3:46157200-46168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:46159600-46165000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:46159600-46165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:46159600-46165000	Weak transcription	Adipose Nuclei	Adipose
8	chr3:46159800-46165000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:46160200-46165000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:46161400-46169400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:46161800-46165000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:46162800-46165200	Enhancers	Fetal Lung	lung
13	chr3:46162800-46165400	Weak transcription	NHDF-Ad	bronchial
14	chr3:46162800-46168800	Weak transcription	HMEC	breast
15	chr3:46163200-46165200	Weak transcription	Hela-S3	cervix
16	chr3:46163200-46166600	Enhancers	NHLF	lung
17	chr3:46163200-46166800	Enhancers	Fetal Stomach	stomach
18	chr3:46163600-46165200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:46164000-46171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:46164400-46166400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:46164400-46166800	Enhancers	Placenta	Placenta
22	chr3:46164800-46167000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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