Variant report

Variant	rs1427499
Chromosome Location	chr2:145400317-145400318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10187896	0.89[ASN][1000 genomes]
rs10201960	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1035837	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10496964	0.96[ASN][1000 genomes]
rs10496965	0.98[ASN][1000 genomes]
rs10803510	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10928227	0.83[JPT][hapmap]
rs11883829	0.83[JPT][hapmap]
rs12691695	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12691696	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13015001	0.83[JPT][hapmap]
rs13020210	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1346343	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1346344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1427500	0.94[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1427506	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs1427507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1427508	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1427509	0.83[JPT][hapmap]
rs1483491	0.83[JPT][hapmap]
rs1559964	0.81[ASN][1000 genomes]
rs1564697	0.83[JPT][hapmap]
rs16823886	1.00[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs17690892	0.96[ASN][1000 genomes]
rs17741930	0.96[ASN][1000 genomes]
rs1834787	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2162571	0.81[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2381649	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2381651	0.83[JPT][hapmap]
rs4143008	0.90[CHB][hapmap]
rs4143010	0.88[AFR][1000 genomes]
rs4143011	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4662232	0.83[JPT][hapmap]
rs4662385	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4662386	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4662388	0.99[ASN][1000 genomes]
rs6727224	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6731249	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7565134	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs767381	0.99[ASN][1000 genomes]
rs900554	0.83[JPT][hapmap]
rs980772	0.83[JPT][hapmap]
rs990847	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1427499	ZEB2	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145396600-145403200	Weak transcription	K562	blood
2	chr2:145399600-145400400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:145399600-145400400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:145399600-145400600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:145399600-145400600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:145399600-145400600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:145399600-145400800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:145399600-145403400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:145400000-145401000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:145400000-145401200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:145400000-145401200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:145400200-145400600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:145400200-145402600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:145400200-145406000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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