Variant report

Variant	rs72804438
Chromosome Location	chr2:47034493-47034494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17035709	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17824594	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55980660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56060227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56172110	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72804437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72804445	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804452	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804458	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804469	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72804470	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47025000-47034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:47026600-47038800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:47027200-47034800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:47030000-47038600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:47030800-47035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:47031000-47038800	Weak transcription	Fetal Heart	heart
7	chr2:47031400-47034600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:47031400-47034600	Enhancers	NHDF-Ad	bronchial
9	chr2:47031400-47034600	Enhancers	Osteobl	bone
10	chr2:47031400-47038600	Weak transcription	Esophagus	oesophagus
11	chr2:47031400-47038600	Weak transcription	Lung	lung
12	chr2:47031400-47038600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:47031400-47043600	Weak transcription	Spleen	Spleen
14	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:47033000-47038600	Weak transcription	Right Atrium	heart
16	chr2:47033000-47038800	Weak transcription	Right Ventricle	heart
17	chr2:47034200-47034800	Weak transcription	Aorta	Aorta
18	chr2:47034200-47038600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:47034400-47034600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:47034400-47038000	Weak transcription	NHLF	lung
21	chr2:47034400-47038200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:47034400-47038400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:47034400-47038600	Weak transcription	NH-A	brain
24	chr2:47034400-47039000	Weak transcription	HSMM	muscle
25	chr2:47034400-47039200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:47034400-47039400	Weak transcription	HUVEC	blood vessel
27	chr2:47034400-47039400	Weak transcription	NHEK	skin
28	chr2:47034400-47039600	Weak transcription	HMEC	breast

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