Variant report

Variant	rs10463640
Chromosome Location	chr5:111887659-111887660
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:111886846..111887851-chr5:112092877..112093891,4	MCF-7	breast:
2	chr5:111886837..111887799-chr5:112092992..112093906,9	K562	blood:
3	chr5:111886306..111888838-chr5:111889426..111891005,2	K562	blood:
4	chr5:111887607..111889700-chr5:111892241..111894417,2	K562	blood:
5	chr5:111886884..111887988-chr5:111940509..111941323,3	K562	blood:
6	chr5:111887498..111890102-chr5:112044744..112046649,2	MCF-7	breast:
7	chr5:111884694..111888064-chr5:112042220..112044384,3	MCF-7	breast:
8	chr5:111887102..111888171-chr5:112026844..112028152,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038874	0.93[EUR][1000 genomes]
rs10040858	0.85[ASN][1000 genomes]
rs10050436	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10055787	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10055908	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10056032	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10060366	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10060474	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10062535	0.92[EUR][1000 genomes]
rs10062917	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10063938	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10064939	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10065383	0.94[ASN][1000 genomes]
rs10065523	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10065629	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10070796	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10074435	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10077808	0.94[ASN][1000 genomes]
rs10463637	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10515442	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs11241169	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11241170	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11241172	0.89[EUR][1000 genomes]
rs11241173	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11952093	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11955149	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11955894	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs13357891	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1530508	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1530509	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1530510	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2121162	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2121163	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2121164	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2416291	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28671308	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28703859	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs338870	0.80[EUR][1000 genomes]
rs3934640	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4958049	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4958050	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55655201	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55813767	0.90[EUR][1000 genomes]
rs56034571	0.90[EUR][1000 genomes]
rs67793660	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72793937	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72793965	0.94[ASN][1000 genomes]
rs7378714	0.89[EUR][1000 genomes]
rs9790874	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9885457	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111884400-111887800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:111884400-111890200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:111885000-111889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:111886400-111887800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:111886600-111888200	Enhancers	Fetal Stomach	stomach
7	chr5:111886600-111889000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:111887000-111888000	Enhancers	Brain Angular Gyrus	brain
9	chr5:111887000-111888200	Enhancers	Brain Anterior Caudate	brain
10	chr5:111887000-111889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:111887400-111887800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:111887400-111888000	Enhancers	Adipose Nuclei	Adipose
13	chr5:111887400-111888000	Enhancers	Liver	Liver
14	chr5:111887400-111888600	Enhancers	HepG2	liver
15	chr5:111887400-111888800	Enhancers	Fetal Intestine Small	intestine
16	chr5:111887400-111889000	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:111887400-111889000	Enhancers	Brain Substantia Nigra	brain
18	chr5:111887600-111887800	Enhancers	Fetal Heart	heart
19	chr5:111887600-111888000	Enhancers	Brain Germinal Matrix	brain
20	chr5:111887600-111888000	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:111887600-111888400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:111887600-111888400	Enhancers	Fetal Intestine Large	intestine
23	chr5:111887600-111888800	Enhancers	Brain Hippocampus Middle	brain
24	chr5:111887600-111888800	Enhancers	Fetal Muscle Leg	muscle
25	chr5:111887600-111889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:111887600-111890200	Weak transcription	Fetal Brain Female	brain

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