Variant report

Variant	rs472792
Chromosome Location	chr5:152871184-152871185
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:152870642-152871393	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr5:152870557-152871318	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
GRIA1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs498858	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs515887	0.81[AFR][1000 genomes]
rs518370	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs524905	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs540375	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs542161	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs548916	1.00[AFR][1000 genomes];0.84[AMR][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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1019051	chr5:152550863-153057896	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868912	chr5:152582002-153095306	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152869400-152872000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr5:152869600-152872600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:152869600-152873000	Active TSS	Fetal Brain Female	brain
4	chr5:152869800-152871200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:152869800-152871400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:152869800-152871800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:152869800-152872000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:152869800-152872000	Active TSS	HSMMtube	muscle
9	chr5:152869800-152872600	Active TSS	Aorta	Aorta
10	chr5:152869800-152873600	Active TSS	Brain Angular Gyrus	brain
11	chr5:152870000-152871200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:152870000-152871400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:152870000-152872400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:152870200-152871400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:152870200-152871400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
16	chr5:152870200-152871600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:152870200-152871600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr5:152870200-152872000	Active TSS	NHDF-Ad	bronchial
19	chr5:152870200-152872600	Active TSS	Fetal Brain Male	brain
20	chr5:152870400-152871200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:152870400-152871400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:152870400-152871400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr5:152870400-152871600	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr5:152870400-152872000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:152870400-152872000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:152870600-152871200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:152870600-152871200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:152870600-152871200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
29	chr5:152870600-152871400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:152870600-152871800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:152870600-152871800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr5:152870800-152871200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr5:152870800-152871200	Enhancers	NHEK	skin
34	chr5:152870800-152871400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr5:152870800-152871600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr5:152870800-152871600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:152870800-152871800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:152870800-152871800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr5:152870800-152872000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr5:152870800-152872200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:152870800-152872200	Active TSS	HSMM	muscle
42	chr5:152870800-152874000	Active TSS	Brain Anterior Caudate	brain
43	chr5:152871000-152871200	Flanking Bivalent TSS/Enh	Lung	lung
44	chr5:152871000-152871200	Bivalent Enhancer	NHLF	lung
45	chr5:152871000-152871400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr5:152871000-152871600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links