Variant report

Variant	rs56275273
Chromosome Location	chr5:112295111-112295112
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112256942..112259777-chr5:112292490..112295980,4	MCF-7	breast:
2	chr5:112256312..112258572-chr5:112293343..112296094,6	MCF-7	breast:
3	chr5:112294256..112295877-chr5:112297212..112298935,2	K562	blood:
4	chr5:112293295..112296045-chr5:112298149..112301329,3	MCF-7	breast:
5	chr5:112292808..112297954-chr5:112311731..112314309,4	MCF-7	breast:
6	chr5:112292660..112295480-chr5:112309614..112313888,4	K562	blood:
7	chr5:112294258..112297172-chr5:112310787..112314038,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129625	Chromatin interaction
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56183614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61431998	1.00[AMR][1000 genomes]
rs728345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789248	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789250	1.00[AMR][1000 genomes]
rs73789265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791482	1.00[AMR][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112291600-112297600	Enhancers	HepG2	liver
2	chr5:112292600-112295200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:112292800-112295200	Enhancers	Adipose Nuclei	Adipose
4	chr5:112292800-112295600	Weak transcription	Lung	lung
5	chr5:112293000-112295200	Enhancers	Liver	Liver
6	chr5:112293200-112295200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:112293200-112296400	Enhancers	Stomach Smooth Muscle	stomach
8	chr5:112293200-112296400	Enhancers	HSMMtube	muscle
9	chr5:112293200-112296400	Enhancers	HUVEC	blood vessel
10	chr5:112293200-112297000	Enhancers	NHDF-Ad	bronchial
11	chr5:112293200-112297000	Enhancers	NHLF	lung
12	chr5:112293400-112297200	Enhancers	Fetal Muscle Leg	muscle
13	chr5:112293400-112297200	Enhancers	Fetal Stomach	stomach
14	chr5:112293600-112295200	Enhancers	Fetal Lung	lung
15	chr5:112293600-112296400	Enhancers	HSMM	muscle
16	chr5:112293800-112295200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:112293800-112295800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:112293800-112296000	Enhancers	Colon Smooth Muscle	Colon
19	chr5:112293800-112296000	Enhancers	Stomach Mucosa	stomach
20	chr5:112293800-112296000	Enhancers	HMEC	breast
21	chr5:112293800-112297000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:112293800-112297000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:112293800-112297200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:112293800-112297200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:112293800-112297600	Enhancers	K562	blood
26	chr5:112293800-112297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:112294000-112295200	Flanking Active TSS	GM12878-XiMat	blood
28	chr5:112294000-112295200	Enhancers	NHEK	skin
29	chr5:112294000-112295400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
31	chr5:112294200-112295200	Enhancers	Brain Anterior Caudate	brain
32	chr5:112294200-112296800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:112294400-112295200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:112294400-112295200	Flanking Active TSS	NH-A	brain
35	chr5:112294400-112295400	Weak transcription	Pancreas	Pancrea
36	chr5:112294400-112295600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:112294400-112295800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:112294400-112295800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:112294400-112298000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:112294600-112295800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:112294600-112296200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:112294600-112299400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:112294800-112295200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:112294800-112295800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:112294800-112295800	Enhancers	Fetal Brain Male	brain
46	chr5:112294800-112295800	Weak transcription	Fetal Brain Female	brain
47	chr5:112294800-112296600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:112294800-112297000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:112294800-112297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:112294800-112299400	Weak transcription	Fetal Heart	heart

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