Variant report

Variant	rs72822626
Chromosome Location	chr5:167758037-167758038
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167717830..167720391-chr5:167755502..167758327,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11954736	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17070081	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17632741	0.82[EUR][1000 genomes]
rs17632785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337214	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449559	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385620	1.00[AFR][1000 genomes]
rs6873605	0.87[ASN][1000 genomes]
rs72822616	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822618	0.91[ASN][1000 genomes]
rs72822619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822620	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822623	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72822625	1.00[ASN][1000 genomes]
rs72822628	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72822629	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828862	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828867	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828869	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7725545	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer 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
5	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167752600-167773000	Weak transcription	Esophagus	oesophagus
2	chr5:167753600-167758600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:167754000-167758200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:167754000-167758800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:167754000-167758800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:167754000-167758800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:167754400-167759000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:167754800-167758200	Enhancers	Fetal Intestine Large	intestine
9	chr5:167755000-167758600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:167755200-167758600	Weak transcription	NHEK	skin
11	chr5:167755400-167758800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167755400-167761200	Weak transcription	HMEC	breast
13	chr5:167755600-167758600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:167755600-167761200	Weak transcription	NHDF-Ad	bronchial
15	chr5:167755600-167761600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:167756000-167760000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:167756200-167760600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:167756200-167760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:167756200-167761000	Weak transcription	Brain Anterior Caudate	brain
20	chr5:167756200-167761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:167756200-167773000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:167756600-167761200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:167756600-167761200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:167756800-167758600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:167756800-167758800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:167756800-167758800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:167756800-167759000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:167756800-167759200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:167756800-167760200	Enhancers	Pancreas	Pancrea
30	chr5:167756800-167760600	Weak transcription	Placenta	Placenta
31	chr5:167756800-167761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:167756800-167761200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:167756800-167761200	Weak transcription	Ovary	ovary
34	chr5:167756800-167761600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:167757200-167758800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:167757200-167758800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:167757200-167761200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:167757200-167761200	Weak transcription	HepG2	liver
39	chr5:167757200-167762000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:167757200-167775200	Weak transcription	Liver	Liver
41	chr5:167757400-167758800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:167757400-167761200	Weak transcription	Fetal Lung	lung
43	chr5:167757600-167758600	Enhancers	Gastric	stomach
44	chr5:167757600-167761200	Enhancers	A549	lung
45	chr5:167757600-167761400	Weak transcription	Fetal Kidney	kidney
46	chr5:167757600-167761600	Weak transcription	Hela-S3	cervix
47	chr5:167757600-167767400	Weak transcription	Fetal Intestine Small	intestine
48	chr5:167757800-167758200	Enhancers	Lung	lung
49	chr5:167757800-167761200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:167758000-167758200	Enhancers	Stomach Mucosa	stomach

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