Variant report

Variant	rs72993913
Chromosome Location	chr3:143248092-143248093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72991996	0.89[AFR][1000 genomes]
rs72991998	0.89[AFR][1000 genomes]
rs72993906	0.89[AFR][1000 genomes]
rs73008895	1.00[AFR][1000 genomes]
rs73008898	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143223000-143256200	Weak transcription	Esophagus	oesophagus
2	chr3:143239200-143255200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:143241800-143251400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:143244200-143249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:143244400-143249000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:143245200-143248800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:143245200-143254800	Weak transcription	NHLF	lung
8	chr3:143245200-143255600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:143245400-143255600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:143245600-143255000	Weak transcription	NHDF-Ad	bronchial
11	chr3:143245600-143255800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:143245800-143254600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:143246200-143249000	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:143246200-143249000	Enhancers	Adipose Nuclei	Adipose
15	chr3:143246800-143251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:143246800-143255400	Weak transcription	HSMM	muscle
17	chr3:143247000-143251800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:143247200-143249000	Enhancers	Fetal Lung	lung
19	chr3:143247400-143248200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr3:143247400-143248200	Enhancers	Aorta	Aorta
21	chr3:143247400-143248400	Enhancers	Primary T cells from cord blood	blood
22	chr3:143247400-143248400	Enhancers	Fetal Stomach	stomach
23	chr3:143247400-143248400	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:143247400-143248600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:143247400-143249000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:143247600-143248400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:143247800-143248200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:143247800-143248200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:143247800-143248200	Active TSS	Primary B cells from cord blood	blood
30	chr3:143247800-143248200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:143247800-143248200	Flanking Active TSS	Osteobl	bone
32	chr3:143247800-143248400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:143247800-143248400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr3:143247800-143248400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:143247800-143249000	Enhancers	HSMMtube	muscle
36	chr3:143247800-143249400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:143248000-143248400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:143248000-143248400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr3:143248000-143248800	Weak transcription	Lung	lung
40	chr3:143248000-143248800	Weak transcription	Ovary	ovary
41	chr3:143248000-143249000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr3:143248000-143249000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr3:143248000-143250800	Enhancers	Dnd41	blood
44	chr3:143248000-143255600	Weak transcription	Brain Substantia Nigra	brain

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