Variant report

Variant	rs73830728
Chromosome Location	chr3:46122085-46122086
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	chr3:45980001..45980840-chr3:46121974..46122633,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1500006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17078579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41395345	1.00[AMR][1000 genomes]
rs57509359	1.00[AMR][1000 genomes]
rs57857531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58692140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59253523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59862185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60829665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854606	1.00[AMR][1000 genomes]
rs73830722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830733	1.00[AFR][1000 genomes]
rs73830737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830784	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46120000-46122400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:46120000-46122400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:46120000-46124000	Enhancers	Fetal Lung	lung
4	chr3:46120200-46122400	Enhancers	NHLF	lung
5	chr3:46120200-46122600	Enhancers	Colon Smooth Muscle	Colon
6	chr3:46120400-46122200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:46120400-46123000	Enhancers	NHDF-Ad	bronchial
8	chr3:46120600-46122400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:46120600-46122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:46120600-46127200	Weak transcription	Fetal Stomach	stomach
11	chr3:46120800-46122200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:46120800-46122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:46120800-46122600	Weak transcription	Placenta	Placenta
14	chr3:46120800-46127000	Weak transcription	HSMMtube	muscle
15	chr3:46120800-46129400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:46121000-46122800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:46121200-46122400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:46121400-46123000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:46121400-46123200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:46121400-46126800	Weak transcription	Fetal Thymus	thymus
21	chr3:46121600-46122800	Enhancers	HMEC	breast
22	chr3:46121600-46123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:46121600-46125800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:46121800-46122800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:46121800-46122800	Enhancers	Ovary	ovary
26	chr3:46121800-46123000	Enhancers	Hela-S3	cervix
27	chr3:46121800-46126000	Enhancers	NHEK	skin

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