Variant report

Variant	rs472528
Chromosome Location	chr1:57664413-57664414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57660035..57661588-chr1:57663099..57665461,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs115246	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197106	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197107	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs197614	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197615	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs264039	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs264041	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482471	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs505131	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs505920	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs564602	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57647000-57670600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57657400-57670200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57662200-57664600	Weak transcription	Fetal Brain Female	brain
4	chr1:57662800-57665200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57663200-57665400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:57663600-57669800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:57663800-57664600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:57663800-57664600	Enhancers	Fetal Brain Male	brain
9	chr1:57663800-57664800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:57663800-57665000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:57663800-57665200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:57663800-57665200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:57664000-57664800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:57664000-57665600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:57664000-57665600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:57664000-57665600	Enhancers	Fetal Heart	heart
17	chr1:57664200-57664600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:57664200-57664600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:57664200-57665000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:57664400-57664800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:57664400-57664800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr1:57664400-57664800	Enhancers	K562	blood
23	chr1:57664400-57665200	Enhancers	Fetal Lung	lung

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