Variant report

Variant	rs11238371
Chromosome Location	chr7:50940065-50940066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10486746	0.89[EUR][1000 genomes]
rs11238391	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11762951	0.94[AMR][1000 genomes]
rs11768798	0.94[EUR][1000 genomes]
rs11768836	0.88[EUR][1000 genomes]
rs11769141	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11769251	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11971137	0.88[EUR][1000 genomes]
rs11975831	0.88[EUR][1000 genomes]
rs11976892	0.88[EUR][1000 genomes]
rs11976942	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11978416	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11979920	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11980879	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11981285	1.00[EUR][1000 genomes]
rs12533689	0.89[EUR][1000 genomes]
rs12537817	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134068	0.94[AMR][1000 genomes]
rs2023959	0.89[EUR][1000 genomes]
rs34867714	0.88[EUR][1000 genomes]
rs55958753	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56025941	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56046626	0.94[AMR][1000 genomes]
rs57377275	0.88[EUR][1000 genomes]
rs57780834	0.88[EUR][1000 genomes]
rs59368174	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61445038	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62447625	0.94[AMR][1000 genomes]
rs62449460	0.94[EUR][1000 genomes]
rs62449466	1.00[EUR][1000 genomes]
rs62449470	0.82[EUR][1000 genomes]
rs62449503	0.89[EUR][1000 genomes]
rs62449531	0.88[EUR][1000 genomes]
rs62449535	0.88[EUR][1000 genomes]
rs62449536	0.83[EUR][1000 genomes]
rs62449537	0.88[EUR][1000 genomes]
rs62449538	0.88[EUR][1000 genomes]
rs6977927	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6979571	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73342645	0.94[AMR][1000 genomes]
rs73342688	1.00[EUR][1000 genomes]
rs73344412	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73344443	0.89[EUR][1000 genomes]
rs7800996	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7806327	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv524131	chr7:50933370-50961303	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv527462	chr7:50933370-50989383	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888022	chr7:50933678-51046674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50936200-50940200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:50937600-50942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50938600-50940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:50938600-50941200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr7:50940000-50940400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr7:50940000-50940600	Enhancers	HepG2	liver
7	chr7:50940000-50941000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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