Variant report

Variant	rs2018824
Chromosome Location	chr7:50954715-50954716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10249897	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10249917	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10481008	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11531636	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765438	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769643	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12113554	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13232494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17725609	0.80[EUR][1000 genomes]
rs2107695	0.81[AFR][1000 genomes]
rs2189819	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2214654	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2329559	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28633916	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34174508	0.81[EUR][1000 genomes]
rs4266601	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947522	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4947968	0.81[EUR][1000 genomes]
rs4947981	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4948033	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4948038	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6964785	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6964994	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6976357	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7784871	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7792463	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7800732	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9692034	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs985340	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv520092	chr7:50943596-50973786	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50947800-50954800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:50953800-50954800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50953800-50955200	Enhancers	Brain Hippocampus Middle	brain
4	chr7:50954000-50955000	Enhancers	Brain Substantia Nigra	brain
5	chr7:50954000-50955400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:50954600-50955000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:50954600-50955000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:50954600-50955000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:50954600-50955200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr7:50954600-50955400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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