Variant report

Variant	rs72889759
Chromosome Location	chr3:46122427-46122428
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	chr3:45980001..45980840-chr3:46121974..46122633,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10049103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1078355	1.00[AMR][1000 genomes]
rs12107160	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13325425	1.00[EUR][1000 genomes]
rs1352880	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491954	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17078464	0.82[AMR][1000 genomes]
rs1846618	1.00[EUR][1000 genomes]
rs1873615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036294	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036296	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2088691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454181	1.00[EUR][1000 genomes]
rs4630978	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56071453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56239523	0.82[AMR][1000 genomes]
rs56738797	1.00[AMR][1000 genomes]
rs57228214	0.82[AMR][1000 genomes]
rs57375372	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57590663	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57636813	0.84[AMR][1000 genomes]
rs57768435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57800045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57887195	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58050797	0.82[AMR][1000 genomes]
rs58139750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58402224	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58442576	0.82[AMR][1000 genomes]
rs58460482	0.82[AMR][1000 genomes]
rs58491168	0.82[AMR][1000 genomes]
rs58969771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59065510	1.00[EUR][1000 genomes]
rs59157393	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59676542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59754516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60080146	1.00[AMR][1000 genomes]
rs61201782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61276379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61598729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61686943	1.00[EUR][1000 genomes]
rs6788758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791693	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6794222	1.00[EUR][1000 genomes]
rs6798934	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885402	1.00[AMR][1000 genomes]
rs72887108	1.00[AMR][1000 genomes]
rs72887131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72887154	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889749	0.84[AFR][1000 genomes]
rs72891111	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891128	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891129	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891712	0.82[AMR][1000 genomes]
rs72899100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904134	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7427033	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7627147	0.82[AMR][1000 genomes]
rs7638236	0.82[AMR][1000 genomes]
rs978316	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978317	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814908	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9830945	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831926	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844424	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852295	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854654	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9859291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9871934	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882976	0.91[AMR][1000 genomes];1.00[EUR][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	chr3:46120000-46124000	Enhancers	Fetal Lung	lung
2	chr3:46120200-46122600	Enhancers	Colon Smooth Muscle	Colon
3	chr3:46120400-46123000	Enhancers	NHDF-Ad	bronchial
4	chr3:46120600-46122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:46120600-46127200	Weak transcription	Fetal Stomach	stomach
6	chr3:46120800-46122600	Weak transcription	Placenta	Placenta
7	chr3:46120800-46127000	Weak transcription	HSMMtube	muscle
8	chr3:46120800-46129400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:46121000-46122800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:46121400-46123000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:46121400-46123200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:46121400-46126800	Weak transcription	Fetal Thymus	thymus
13	chr3:46121600-46122800	Enhancers	HMEC	breast
14	chr3:46121600-46123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:46121600-46125800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:46121800-46122800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:46121800-46122800	Enhancers	Ovary	ovary
18	chr3:46121800-46123000	Enhancers	Hela-S3	cervix
19	chr3:46121800-46126000	Enhancers	NHEK	skin
20	chr3:46122200-46122800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:46122200-46123000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:46122200-46123400	Enhancers	Adipose Nuclei	Adipose
23	chr3:46122400-46122600	Enhancers	Duodenum Mucosa	Duodenum
24	chr3:46122400-46122600	Enhancers	Fetal Muscle Leg	muscle
25	chr3:46122400-46122800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:46122400-46123200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:46122400-46125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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