Variant report

Variant	rs11112749
Chromosome Location	chr12:106212763-106212764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106211531..106213143-chr12:106215086..106217327,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs747855	0.81[AFR][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	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112749	CCDC53	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106207000-106214000	Weak transcription	Right Atrium	heart
2	chr12:106207000-106214400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:106207400-106212800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:106207400-106214000	Weak transcription	Aorta	Aorta
5	chr12:106207400-106215400	Weak transcription	Fetal Stomach	stomach
6	chr12:106207400-106216000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:106208200-106215600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:106209000-106214000	Weak transcription	Right Ventricle	heart
9	chr12:106209000-106214600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:106209000-106214600	Weak transcription	Fetal Thymus	thymus
11	chr12:106211600-106214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:106212200-106212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:106212200-106213000	Weak transcription	Adipose Nuclei	Adipose
14	chr12:106212400-106213000	Enhancers	Left Ventricle	heart
15	chr12:106212400-106213000	Enhancers	Lung	lung
16	chr12:106212400-106213000	Enhancers	Psoas Muscle	Psoas
17	chr12:106212400-106213000	Genic enhancers	HSMMtube	muscle
18	chr12:106212400-106215400	Enhancers	Liver	Liver
19	chr12:106212400-106216000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:106212600-106213200	Enhancers	Placenta	Placenta
21	chr12:106212600-106216800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:106212600-106217000	Enhancers	Primary monocytes fromperipheralblood	blood

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