Variant report

Variant	rs11745418
Chromosome Location	chr5:111887129-111887130
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr5:111886884..111887988-chr5:111940509..111941323,3	K562	blood:
5	chr5:111827723..111828709-chr5:111886769..111887504,3	MCF-7	breast:
6	chr5:111884694..111888064-chr5:112042220..112044384,3	MCF-7	breast:
7	chr5:111827820..111828819-chr5:111886665..111887192,2	MCF-7	breast:
8	chr5:111886856..111887404-chr5:112046425..112047135,2	MCF-7	breast:
9	chr5:111887102..111888171-chr5:112026844..112028152,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11740414	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11748780	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1422541	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1445934	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs163456	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs338843	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs338854	0.85[AMR][1000 genomes]
rs338863	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs338864	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs338867	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs338869	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs338873	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs401722	0.81[EUR][1000 genomes]
rs430143	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs437318	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4376316	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs445130	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4574588	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7443518	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111883800-111887600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:111884400-111887800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:111884400-111890200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:111884600-111887400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:111884600-111887400	Enhancers	K562	blood
6	chr5:111885000-111889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:111885800-111887400	Weak transcription	Adipose Nuclei	Adipose
8	chr5:111886400-111887800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:111886600-111888200	Enhancers	Fetal Stomach	stomach
11	chr5:111886600-111889000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:111886800-111887600	Enhancers	Colon Smooth Muscle	Colon
13	chr5:111887000-111887200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:111887000-111887600	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:111887000-111887600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:111887000-111888000	Enhancers	Brain Angular Gyrus	brain
17	chr5:111887000-111888200	Enhancers	Brain Anterior Caudate	brain
18	chr5:111887000-111889800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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