Variant report

Variant	rs12270183
Chromosome Location	chr11:66820594-66820595
allele	C/G
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	chr11:66820321..66823025-chr11:67079850..67082744,2	MCF-7	breast:
2	chr11:66620791..66624898-chr11:66820050..66822963,3	MCF-7	breast:
3	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
4	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
5	chr11:66762305..66765818-chr11:66818410..66820862,3	MCF-7	breast:
6	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
7	chr11:66819410..66821529-chr11:67014948..67016472,2	MCF-7	breast:
8	chr11:66778727..66780761-chr11:66820414..66821996,2	MCF-7	breast:
9	chr11:66818628..66821537-chr11:67006249..67008280,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252709	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000173621	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10160663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10896146	1.00[EUR][1000 genomes]
rs10896147	1.00[EUR][1000 genomes]
rs10896148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12222286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270068	0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273240	1.00[EUR][1000 genomes]
rs12274897	1.00[EUR][1000 genomes]
rs12275370	1.00[EUR][1000 genomes]
rs12276046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277065	1.00[EUR][1000 genomes]
rs12277720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281292	1.00[EUR][1000 genomes]
rs12281335	1.00[EUR][1000 genomes]
rs12281512	1.00[EUR][1000 genomes]
rs12282433	1.00[EUR][1000 genomes]
rs12282440	1.00[EUR][1000 genomes]
rs12284422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285661	1.00[EUR][1000 genomes]
rs12287658	1.00[EUR][1000 genomes]
rs12288309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288354	1.00[EUR][1000 genomes]
rs12290308	1.00[EUR][1000 genomes]
rs12290429	1.00[EUR][1000 genomes]
rs12290836	1.00[AMR][1000 genomes]
rs12290886	1.00[AMR][1000 genomes]
rs12290950	1.00[AMR][1000 genomes]
rs12292728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12788732	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56173916	1.00[EUR][1000 genomes]
rs56973649	1.00[EUR][1000 genomes]
rs57604888	1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57946225	1.00[EUR][1000 genomes]
rs60751057	1.00[EUR][1000 genomes]
rs7109580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73493529	1.00[EUR][1000 genomes]
rs73493531	1.00[EUR][1000 genomes]
rs73501797	1.00[EUR][1000 genomes]
rs73501800	1.00[EUR][1000 genomes]
rs7924894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925264	1.00[EUR][1000 genomes]
rs7941982	1.00[EUR][1000 genomes]
rs7942885	1.00[EUR][1000 genomes]
rs7948985	1.00[AMR][1000 genomes];1.00[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	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
3	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv555240	chr11:66796380-66820728	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66801200-66821600	Weak transcription	Brain Angular Gyrus	brain
2	chr11:66802400-66821600	Weak transcription	Brain Anterior Caudate	brain
3	chr11:66802400-66821800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:66812000-66821600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:66812600-66821800	Weak transcription	Right Ventricle	heart
6	chr11:66813400-66821400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:66813600-66823400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:66816200-66821400	Weak transcription	Gastric	stomach
9	chr11:66816200-66821800	Weak transcription	GM12878-XiMat	blood
10	chr11:66816400-66821400	Weak transcription	Osteobl	bone
11	chr11:66816600-66821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:66816800-66821200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:66816800-66823400	Weak transcription	NHDF-Ad	bronchial
14	chr11:66817200-66821200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:66817800-66821600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:66818200-66820600	Weak transcription	Placenta	Placenta
17	chr11:66819400-66820800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:66819600-66821400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:66819600-66821400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:66819600-66823200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:66820000-66821200	Enhancers	Hela-S3	cervix
22	chr11:66820200-66823600	Enhancers	Pancreas	Pancrea
23	chr11:66820200-66823800	Enhancers	Stomach Mucosa	stomach
24	chr11:66820400-66820600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:66820400-66820600	Bivalent Enhancer	HepG2	liver
26	chr11:66820400-66820800	Flanking Active TSS	Liver	Liver
27	chr11:66820400-66821800	Enhancers	A549	lung
28	chr11:66820400-66822800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:66820400-66823600	Enhancers	Esophagus	oesophagus

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