Variant report

Variant	rs73830731
Chromosome Location	chr3:46124608-46124609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46123578..46126069-chr3:46127195..46129826,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs41366447	1.00[AMR][1000 genomes]
rs55640923	1.00[AMR][1000 genomes]
rs55751414	1.00[AMR][1000 genomes]
rs55931101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56109512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58433765	1.00[AMR][1000 genomes]
rs58770254	1.00[AMR][1000 genomes]
rs58794528	1.00[AMR][1000 genomes]
rs59159352	1.00[AMR][1000 genomes]
rs59998763	1.00[AMR][1000 genomes]
rs61610167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767478	1.00[AMR][1000 genomes]
rs73830718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830721	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830761	1.00[AMR][1000 genomes]
rs73830766	1.00[AMR][1000 genomes]
rs73830778	1.00[AMR][1000 genomes]
rs73830799	1.00[AMR][1000 genomes]
rs73830801	1.00[AMR][1000 genomes]
rs73830802	1.00[AMR][1000 genomes]
rs73833003	1.00[AMR][1000 genomes]
rs73833004	1.00[AMR][1000 genomes]
rs73833024	1.00[AMR][1000 genomes]
rs73833037	1.00[AMR][1000 genomes]
rs7626037	1.00[AMR][1000 genomes]
rs7643001	1.00[AMR][1000 genomes]
rs9834935	1.00[AMR][1000 genomes]
rs9840179	1.00[AMR][1000 genomes]
rs9860832	1.00[AMR][1000 genomes]
rs9865446	1.00[AMR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46120600-46127200	Weak transcription	Fetal Stomach	stomach
2	chr3:46120800-46127000	Weak transcription	HSMMtube	muscle
3	chr3:46120800-46129400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:46121400-46126800	Weak transcription	Fetal Thymus	thymus
5	chr3:46121600-46125800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:46121800-46126000	Enhancers	NHEK	skin
7	chr3:46122400-46125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:46122600-46125200	Enhancers	Placenta	Placenta
9	chr3:46122600-46127000	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:46122800-46126600	Weak transcription	Ovary	ovary
11	chr3:46123000-46127600	Weak transcription	Hela-S3	cervix
12	chr3:46123200-46125800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:46123200-46125800	Enhancers	HMEC	breast
14	chr3:46123200-46126200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr3:46123200-46127000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:46123200-46129600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:46123400-46125400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:46123400-46125800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:46123400-46130400	Weak transcription	Adipose Nuclei	Adipose
20	chr3:46123600-46125800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:46123800-46125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:46124600-46125000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:46124600-46127000	Weak transcription	Fetal Lung	lung

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