Variant report

Variant	rs60727471
Chromosome Location	chr11:119624396-119624397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119622707..119625019-chr11:119625519..119627831,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10892449	0.92[EUR][1000 genomes]
rs11217451	0.92[EUR][1000 genomes]
rs11217462	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11217470	0.92[EUR][1000 genomes]
rs11217472	0.92[EUR][1000 genomes]
rs7128327	0.92[EUR][1000 genomes]
rs7940298	0.87[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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119613600-119636000	Weak transcription	Right Atrium	heart
2	chr11:119613800-119625400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:119614400-119625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:119614400-119628200	Weak transcription	Gastric	stomach
5	chr11:119621400-119624600	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:119622000-119629200	Enhancers	Brain Germinal Matrix	brain
7	chr11:119622200-119626200	Bivalent Enhancer	Fetal Stomach	stomach
8	chr11:119622400-119626800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr11:119622600-119624600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:119622600-119624600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:119622600-119625600	Enhancers	HSMMtube	muscle
12	chr11:119622800-119624400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:119622800-119624400	Enhancers	HMEC	breast
14	chr11:119622800-119625800	Enhancers	Pancreas	Pancrea
15	chr11:119623000-119625000	Bivalent Enhancer	Placenta	Placenta
16	chr11:119623200-119624400	Enhancers	Fetal Brain Male	brain
17	chr11:119623200-119624600	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:119623400-119624400	Enhancers	Liver	Liver
19	chr11:119623400-119624400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:119623400-119624600	Enhancers	Brain Angular Gyrus	brain
21	chr11:119623400-119624800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:119623400-119629600	Weak transcription	Spleen	Spleen
23	chr11:119623600-119624600	Weak transcription	Fetal Heart	heart
24	chr11:119623800-119631800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:119624000-119625000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:119624000-119625200	Weak transcription	Esophagus	oesophagus
27	chr11:119624000-119625800	Flanking Active TSS	GM12878-XiMat	blood
28	chr11:119624000-119627000	Weak transcription	Brain Substantia Nigra	brain
29	chr11:119624200-119624400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:119624200-119624400	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr11:119624200-119624400	Enhancers	Fetal Brain Female	brain
32	chr11:119624200-119626200	Weak transcription	Brain Hippocampus Middle	brain

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