Variant report

Variant	rs72938231
Chromosome Location	chr3:111565465-111565466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1282974	1.00[AMR][1000 genomes]
rs1709249	0.85[AMR][1000 genomes]
rs57784706	0.83[AMR][1000 genomes]
rs72938226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938229	1.00[AMR][1000 genomes]
rs72938235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938238	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72938239	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72938244	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111559600-111567400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:111559800-111567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:111563000-111577400	Weak transcription	HepG2	liver
5	chr3:111563600-111568400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:111563800-111571200	Weak transcription	Stomach Mucosa	stomach
7	chr3:111564400-111565600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:111564400-111567800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:111564400-111568400	Enhancers	NHEK	skin
10	chr3:111564600-111565600	Enhancers	HUVEC	blood vessel
11	chr3:111564600-111565800	Enhancers	HSMM	muscle
12	chr3:111564600-111568000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:111564600-111568000	Enhancers	HMEC	breast
14	chr3:111564600-111568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:111564600-111568400	Enhancers	Hela-S3	cervix
16	chr3:111564800-111566000	Enhancers	Osteobl	bone
17	chr3:111564800-111566200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:111564800-111566200	Enhancers	NH-A	brain
19	chr3:111564800-111567800	Strong transcription	Liver	Liver
20	chr3:111564800-111568200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:111564800-111568200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:111565000-111565600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:111565000-111565800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:111565000-111565800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:111565000-111566200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:111565000-111566200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:111565000-111567600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:111565000-111571200	Enhancers	Placenta	Placenta
29	chr3:111565200-111565800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:111565400-111566000	Enhancers	A549	lung
31	chr3:111565400-111566800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:111565400-111567200	Weak transcription	NHDF-Ad	bronchial
33	chr3:111565400-111569400	Weak transcription	NHLF	lung

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