Variant report

Variant	rs12278548
Chromosome Location	chr11:120687577-120687578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120682539..120685026-chr11:120686697..120688763,2	K562	blood:
2	chr11:120685758..120688190-chr11:120775637..120777346,2	MCF-7	breast:
3	chr11:120686696..120688253-chr11:120698044..120700322,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11218009	1.00[EUR][1000 genomes]
rs11218020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11218033	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11501142	1.00[EUR][1000 genomes]
rs11822985	1.00[EUR][1000 genomes]
rs12270392	1.00[EUR][1000 genomes]
rs12275938	0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278293	1.00[EUR][1000 genomes]
rs12279279	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs12279371	1.00[EUR][1000 genomes]
rs12285831	1.00[EUR][1000 genomes]
rs12286020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289919	1.00[EUR][1000 genomes]
rs12290599	1.00[EUR][1000 genomes]
rs12291509	1.00[EUR][1000 genomes]
rs12291645	0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295088	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124355	1.00[EUR][1000 genomes]
rs57090447	1.00[EUR][1000 genomes]
rs57940959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58190380	1.00[EUR][1000 genomes]
rs61512619	1.00[EUR][1000 genomes]
rs7114795	1.00[EUR][1000 genomes]
rs73578576	1.00[EUR][1000 genomes]
rs73578585	1.00[EUR][1000 genomes]
rs73580678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73580685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938287	1.00[EUR][1000 genomes]
rs7948126	0.93[YRI][hapmap];1.00[AMR][1000 genomes];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	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120673600-120687800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:120673600-120687800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:120674000-120696000	Weak transcription	Fetal Lung	lung
4	chr11:120678800-120688000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:120680200-120695000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:120681200-120687800	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:120684000-120688000	Weak transcription	Right Atrium	heart
8	chr11:120684000-120707600	Weak transcription	Ovary	ovary
9	chr11:120685400-120687600	Enhancers	Colonic Mucosa	Colon
10	chr11:120686000-120688600	Enhancers	Adipose Nuclei	Adipose
11	chr11:120686200-120687600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:120686800-120688600	Bivalent Enhancer	Placenta	Placenta
13	chr11:120687000-120687800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:120687000-120688200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:120687000-120688400	Enhancers	Brain Anterior Caudate	brain
16	chr11:120687000-120688400	Enhancers	Brain Germinal Matrix	brain
17	chr11:120687000-120688800	Enhancers	HepG2	liver
18	chr11:120687200-120690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:120687400-120688200	Enhancers	Brain Substantia Nigra	brain
20	chr11:120687400-120688400	Enhancers	Cortex derived primary cultured neurospheres	brain

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