Variant report

Variant	rs1485123
Chromosome Location	chr2:151927460-151927461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10167188	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754973	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478383	1.00[EUR][1000 genomes]
rs1351931	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1351932	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1351934	1.00[EUR][1000 genomes]
rs1351935	1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs1351936	1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385425	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385433	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1485100	1.00[EUR][1000 genomes]
rs1485114	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485115	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1485119	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485120	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485128	0.82[ASW][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1485129	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485130	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586256	1.00[EUR][1000 genomes]
rs16829378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843272	1.00[EUR][1000 genomes]
rs1905750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948024	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341847	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664232	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664909	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664910	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433131	1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433132	1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433135	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705392	1.00[EUR][1000 genomes]
rs6761406	1.00[EUR][1000 genomes]
rs7589036	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789772	1.00[EUR][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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151920200-151927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:151920800-151928200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:151925000-151927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:151926400-151928200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:151926400-151928400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:151926400-151928400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:151926400-151928400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:151926400-151928400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:151926400-151928800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:151926400-151929000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:151926600-151928600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:151926800-151927800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:151926800-151927800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:151927400-151928000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:151927400-151941000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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