Variant report

Variant	rs821732
Chromosome Location	chr5:111669092-111669093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11953449	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6860627	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861968	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111665400-111670600	Weak transcription	Hela-S3	cervix
4	chr5:111665400-111674600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:111665600-111669200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:111665600-111674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:111665800-111669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:111666000-111669800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:111667200-111669800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:111667200-111674000	Weak transcription	Esophagus	oesophagus
11	chr5:111667600-111671200	Weak transcription	Gastric	stomach
12	chr5:111668400-111669400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:111668400-111669800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:111668600-111669400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:111668600-111669600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:111668600-111669600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:111668600-111669600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:111668600-111669800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:111668600-111669800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:111668600-111669800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:111668600-111670000	Enhancers	Fetal Brain Female	brain
22	chr5:111668800-111669200	Enhancers	Lung	lung
23	chr5:111668800-111669200	Flanking Active TSS	Right Atrium	heart
24	chr5:111668800-111669200	Flanking Active TSS	HUVEC	blood vessel
25	chr5:111668800-111669400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:111668800-111669400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:111668800-111669600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:111668800-111669600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:111668800-111669600	Enhancers	Adipose Nuclei	Adipose
30	chr5:111668800-111669600	Enhancers	Fetal Brain Male	brain
31	chr5:111668800-111669800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:111668800-111669800	Enhancers	Fetal Lung	lung
33	chr5:111668800-111669800	Enhancers	Pancreas	Pancrea
34	chr5:111668800-111669800	Enhancers	Right Ventricle	heart
35	chr5:111668800-111670000	Enhancers	Left Ventricle	heart
36	chr5:111669000-111669200	Enhancers	Psoas Muscle	Psoas
37	chr5:111669000-111669400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:111669000-111669400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:111669000-111669400	Enhancers	Brain Hippocampus Middle	brain
40	chr5:111669000-111669400	Flanking Active TSS	Fetal Heart	heart
41	chr5:111669000-111669400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr5:111669000-111669400	Enhancers	Spleen	Spleen
43	chr5:111669000-111669600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:111669000-111669600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr5:111669000-111669600	Enhancers	Fetal Kidney	kidney
46	chr5:111669000-111669800	Enhancers	Brain Substantia Nigra	brain
47	chr5:111669000-111670000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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