Variant report

Variant	rs72945386
Chromosome Location	chr3:111480605-111480606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56005252	0.94[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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111477400-111481800	Weak transcription	Left Ventricle	heart
2	chr3:111477600-111484600	Enhancers	HMEC	breast
3	chr3:111478000-111484600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:111478800-111484200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:111478800-111484200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:111478800-111484800	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:111479000-111480800	Weak transcription	Adipose Nuclei	Adipose
8	chr3:111479200-111482600	Weak transcription	HepG2	liver
9	chr3:111479800-111480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:111479800-111481000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:111479800-111481000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:111479800-111481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:111479800-111481000	Enhancers	Aorta	Aorta
14	chr3:111479800-111483800	Enhancers	A549	lung
15	chr3:111479800-111484400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:111479800-111484800	Enhancers	Osteobl	bone
17	chr3:111480000-111480800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:111480000-111480800	Weak transcription	Esophagus	oesophagus
19	chr3:111480000-111484000	Enhancers	NH-A	brain
20	chr3:111480000-111484400	Enhancers	Colon Smooth Muscle	Colon
21	chr3:111480000-111484400	Enhancers	Hela-S3	cervix
22	chr3:111480200-111480800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:111480200-111480800	Enhancers	Stomach Mucosa	stomach
24	chr3:111480200-111480800	Enhancers	HUVEC	blood vessel
25	chr3:111480200-111481000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:111480200-111481400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:111480200-111481600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:111480200-111482000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:111480200-111484200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:111480200-111484400	Enhancers	NHLF	lung
31	chr3:111480200-111484600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr3:111480200-111492000	Enhancers	Liver	Liver
33	chr3:111480400-111480800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:111480400-111480800	Enhancers	Fetal Heart	heart
35	chr3:111480400-111480800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr3:111480400-111482200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr3:111480400-111482200	Enhancers	Fetal Thymus	thymus
38	chr3:111480400-111482800	Enhancers	Fetal Muscle Leg	muscle
39	chr3:111480400-111483000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:111480400-111483000	Enhancers	Fetal Stomach	stomach
41	chr3:111480400-111484400	Enhancers	NHEK	skin
42	chr3:111480600-111480800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr3:111480600-111480800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr3:111480600-111480800	Flanking Active TSS	HSMM	muscle
45	chr3:111480600-111481000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:111480600-111481000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:111480600-111483000	Weak transcription	Fetal Lung	lung
48	chr3:111480600-111484200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:111480600-111484400	Enhancers	HSMMtube	muscle
50	chr3:111480600-111484800	Enhancers	NHDF-Ad	bronchial

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