Variant report

Variant	rs72822618
Chromosome Location	chr5:167747707-167747708
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11954736	0.91[ASN][1000 genomes]
rs17051843	0.80[ASN][1000 genomes]
rs17070081	0.91[ASN][1000 genomes]
rs17632785	0.91[ASN][1000 genomes]
rs2337213	0.91[ASN][1000 genomes]
rs2337214	0.91[ASN][1000 genomes]
rs4449559	0.91[ASN][1000 genomes]
rs72822616	1.00[ASN][1000 genomes]
rs72822619	1.00[ASN][1000 genomes]
rs72822620	1.00[ASN][1000 genomes]
rs72822623	1.00[ASN][1000 genomes]
rs72822625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822626	0.91[ASN][1000 genomes]
rs72822628	0.91[ASN][1000 genomes]
rs72822629	0.91[ASN][1000 genomes]
rs72828862	0.91[ASN][1000 genomes]
rs72828867	0.91[ASN][1000 genomes]
rs72828869	0.91[ASN][1000 genomes]
rs728668	1.00[ASN][1000 genomes]
rs7725545	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];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:36 , 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	chr5:167744800-167747800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:167744800-167751600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:167745000-167752000	Weak transcription	Brain Anterior Caudate	brain
10	chr5:167745000-167756000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:167745200-167751800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:167745200-167751800	Weak transcription	Stomach Mucosa	stomach
13	chr5:167745200-167752000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:167745200-167752200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:167745600-167754000	Weak transcription	HepG2	liver
16	chr5:167746000-167750000	Genic enhancers	A549	lung
17	chr5:167746000-167752000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:167746000-167754200	Weak transcription	Fetal Lung	lung
19	chr5:167746200-167747800	Weak transcription	Hela-S3	cervix
20	chr5:167746200-167754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:167746600-167752000	Weak transcription	Fetal Intestine Small	intestine
22	chr5:167746800-167752000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:167747000-167747800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:167747400-167748000	Enhancers	Placenta	Placenta
25	chr5:167747400-167752200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:167747600-167747800	Enhancers	Esophagus	oesophagus
27	chr5:167747600-167748000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:167747600-167748000	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:167747600-167748000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:167747600-167748200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:167747600-167748200	Enhancers	Brain Germinal Matrix	brain
32	chr5:167747600-167748200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:167747600-167748200	Enhancers	Fetal Heart	heart
34	chr5:167747600-167748200	Enhancers	Fetal Kidney	kidney
35	chr5:167747600-167748200	Enhancers	Pancreas	Pancrea
36	chr5:167747600-167748400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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