Variant report

Variant	rs2109183
Chromosome Location	chr3:53533568-53533569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53527475..53531261-chr3:53531911..53536619,5	MCF-7	breast:
2	chr3:53531651..53534116-chr3:53541536..53543910,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157388	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11917637	1.00[AMR][1000 genomes]
rs11922512	1.00[AMR][1000 genomes]
rs17030962	1.00[AMR][1000 genomes]
rs17053107	1.00[AMR][1000 genomes]
rs17053120	1.00[AMR][1000 genomes]
rs57244620	1.00[AMR][1000 genomes]
rs72957240	1.00[AMR][1000 genomes]
rs72957241	1.00[AMR][1000 genomes]
rs72957261	1.00[AMR][1000 genomes]
rs7635797	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53530200-53533600	Enhancers	Colon Smooth Muscle	Colon
2	chr3:53531000-53536600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:53531200-53537800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:53531400-53533600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:53531400-53533600	Enhancers	Fetal Stomach	stomach
6	chr3:53531400-53535200	Genic enhancers	Fetal Lung	lung
7	chr3:53531600-53533600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:53531800-53533800	Enhancers	A549	lung
9	chr3:53532200-53533600	Enhancers	Fetal Kidney	kidney
10	chr3:53532400-53533600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:53532400-53533600	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:53532400-53534000	Genic enhancers	Fetal Intestine Small	intestine
13	chr3:53532600-53533600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr3:53532800-53534000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:53532800-53534000	Enhancers	Liver	Liver
16	chr3:53533000-53533600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:53533000-53534200	Enhancers	Fetal Intestine Large	intestine
18	chr3:53533000-53535200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:53533200-53534800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:53533200-53546000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:53533400-53534000	Enhancers	HepG2	liver
22	chr3:53533400-53535600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:53533400-53536200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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