Variant report

Variant	rs1251499
Chromosome Location	chr1:76514827-76514828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10127768	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021463	1.00[EUR][1000 genomes]
rs10493581	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144344	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1146661	1.00[CHB][hapmap]
rs1146662	1.00[CHB][hapmap]
rs12401785	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251476	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1251495	0.81[AFR][1000 genomes]
rs1251519	1.00[ASN][1000 genomes]
rs1251526	1.00[ASN][1000 genomes]
rs1251528	1.00[ASN][1000 genomes]
rs1251532	1.00[EUR][1000 genomes]
rs1251538	1.00[EUR][1000 genomes]
rs1251554	1.00[EUR][1000 genomes]
rs1251559	1.00[EUR][1000 genomes]
rs1251563	1.00[EUR][1000 genomes]
rs1251589	1.00[EUR][1000 genomes]
rs1251590	1.00[EUR][1000 genomes]
rs1251592	1.00[EUR][1000 genomes]
rs1251593	1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1616175	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs17098016	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098027	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098034	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098071	1.00[EUR][1000 genomes]
rs1770884	1.00[EUR][1000 genomes]
rs1796809	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs28675110	1.00[EUR][1000 genomes]
rs5745520	1.00[JPT][hapmap]
rs60471485	1.00[EUR][1000 genomes]
rs60815815	1.00[EUR][1000 genomes]
rs6691913	1.00[EUR][1000 genomes]
rs6702596	1.00[EUR][1000 genomes]
rs72988548	1.00[EUR][1000 genomes]
rs72988551	1.00[EUR][1000 genomes]
rs72990771	1.00[EUR][1000 genomes]
rs72992611	1.00[EUR][1000 genomes]
rs7515337	1.00[EUR][1000 genomes]
rs7537853	1.00[CHB][hapmap]
rs946982	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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947186	chr1:76512447-76530843	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76513600-76515200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:76513600-76515400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:76513800-76515400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:76513800-76515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:76513800-76515400	Enhancers	Fetal Brain Male	brain
6	chr1:76514000-76515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:76514000-76515400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:76514000-76515400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:76514200-76515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:76514200-76518600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:76514400-76517800	Weak transcription	Fetal Stomach	stomach
12	chr1:76514400-76518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:76514600-76515000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:76514600-76515400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:76514800-76515000	Enhancers	Fetal Lung	lung

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