Variant report

Variant	rs72822619
Chromosome Location	chr5:167748517-167748518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11954736	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12514628	0.81[EUR][1000 genomes]
rs17051843	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17070081	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17632741	0.83[EUR][1000 genomes]
rs17632785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2337213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2337214	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4449559	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62385620	1.00[AFR][1000 genomes]
rs72822615	0.81[EUR][1000 genomes]
rs72822616	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822618	1.00[ASN][1000 genomes]
rs72822620	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822623	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822625	0.91[ASN][1000 genomes]
rs72822626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822628	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822629	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72828862	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72828867	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72828869	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs728668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725545	0.91[ASN][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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167741800-167751200	Weak transcription	Gastric	stomach
2	chr5:167742800-167754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:167744400-167752000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:167744600-167751200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:167744600-167752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:167744600-167757800	Weak transcription	Lung	lung
7	chr5:167744800-167751600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:167745000-167752000	Weak transcription	Brain Anterior Caudate	brain
9	chr5:167745000-167756000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:167745200-167751800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:167745200-167751800	Weak transcription	Stomach Mucosa	stomach
12	chr5:167745200-167752000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:167745200-167752200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:167745600-167754000	Weak transcription	HepG2	liver
15	chr5:167746000-167750000	Genic enhancers	A549	lung
16	chr5:167746000-167752000	Weak transcription	Fetal Intestine Large	intestine
17	chr5:167746000-167754200	Weak transcription	Fetal Lung	lung
18	chr5:167746200-167754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:167746600-167752000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:167746800-167752000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:167747400-167752200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:167747800-167751200	Weak transcription	Esophagus	oesophagus
23	chr5:167748000-167749800	Weak transcription	Hela-S3	cervix
24	chr5:167748000-167751200	Weak transcription	Placenta	Placenta
25	chr5:167748000-167752000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:167748000-167755000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:167748200-167750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:167748200-167750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:167748200-167752000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:167748200-167752200	Weak transcription	Pancreas	Pancrea
31	chr5:167748200-167754200	Weak transcription	Fetal Kidney	kidney
32	chr5:167748400-167752000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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