Variant report

Variant	rs72754922
Chromosome Location	chr5:42547714-42547715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10941581	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743641	0.89[EUR][1000 genomes]
rs11744988	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11748224	0.85[EUR][1000 genomes]
rs11954102	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162596	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35227546	1.00[ASN][1000 genomes]
rs35703418	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4283797	1.00[ASN][1000 genomes]
rs4330467	1.00[ASN][1000 genomes]
rs56937761	0.81[EUR][1000 genomes]
rs59463904	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66487711	0.81[EUR][1000 genomes]
rs66756362	0.81[EUR][1000 genomes]
rs67526935	0.85[EUR][1000 genomes]
rs67529954	0.81[EUR][1000 genomes]
rs67600650	0.81[EUR][1000 genomes]
rs6870809	1.00[ASN][1000 genomes]
rs6887528	1.00[ASN][1000 genomes]
rs72753093	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72753097	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72753100	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754906	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754916	0.96[EUR][1000 genomes]
rs72754917	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754935	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754947	1.00[ASN][1000 genomes]
rs72754950	1.00[ASN][1000 genomes]
rs73087462	1.00[ASN][1000 genomes]
rs7700564	1.00[ASN][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42539800-42552000	Weak transcription	Ovary	ovary
2	chr5:42541000-42552400	Weak transcription	Aorta	Aorta
3	chr5:42544200-42551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:42544400-42549200	Weak transcription	Psoas Muscle	Psoas
5	chr5:42544400-42551000	Weak transcription	Fetal Heart	heart
6	chr5:42544800-42553200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:42545600-42549600	Enhancers	Fetal Lung	lung
8	chr5:42545800-42548400	Enhancers	Liver	Liver
9	chr5:42546400-42548200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:42546400-42548400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:42546400-42550400	Enhancers	Fetal Stomach	stomach
12	chr5:42546400-42553800	Enhancers	Adipose Nuclei	Adipose
13	chr5:42546600-42550000	Weak transcription	Right Ventricle	heart
14	chr5:42546600-42550200	Enhancers	Colon Smooth Muscle	Colon
15	chr5:42546600-42552000	Weak transcription	Right Atrium	heart
16	chr5:42546800-42548000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:42546800-42548400	Enhancers	HUVEC	blood vessel
18	chr5:42546800-42548800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:42546800-42549800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:42547000-42548000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:42547000-42548200	Enhancers	NHDF-Ad	bronchial
22	chr5:42547000-42549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:42547400-42548400	Enhancers	Left Ventricle	heart
24	chr5:42547400-42549400	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links