Variant report

Variant	rs60288118
Chromosome Location	chr3:133572118-133572119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133570250..133572639-chr3:133612041..133614943,2	K562	blood:
2	chr3:133569732..133572608-chr3:133572920..133575487,2	MCF-7	breast:
3	chr3:133570958..133573124-chr3:133576630..133579522,2	K562	blood:

Variant related genes	Relation type
ENSG00000154917	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11915225	1.00[AMR][1000 genomes]
rs11919310	1.00[AMR][1000 genomes]
rs41298987	1.00[AMR][1000 genomes]
rs58912773	1.00[AMR][1000 genomes]
rs6775081	1.00[AMR][1000 genomes]
rs6803647	1.00[AMR][1000 genomes]
rs72976364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976365	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177195	1.00[AMR][1000 genomes]
rs8177200	1.00[AMR][1000 genomes]
rs8177202	1.00[AMR][1000 genomes]
rs8177226	1.00[AMR][1000 genomes]
rs8177229	1.00[AMR][1000 genomes]
rs8177234	1.00[AMR][1000 genomes]
rs8177238	1.00[AMR][1000 genomes]
rs8177242	1.00[AMR][1000 genomes]
rs8177246	1.00[AMR][1000 genomes]
rs8177255	1.00[AMR][1000 genomes]
rs8177281	1.00[AMR][1000 genomes]
rs8177282	1.00[AMR][1000 genomes]
rs8177284	1.00[AMR][1000 genomes]
rs8177286	1.00[AMR][1000 genomes]
rs8177298	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133539400-133572200	Weak transcription	Fetal Brain Male	brain
2	chr3:133544600-133573200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:133544600-133584200	Weak transcription	Esophagus	oesophagus
4	chr3:133545000-133582800	Weak transcription	Gastric	stomach
5	chr3:133558400-133572400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:133558600-133572200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:133558600-133588000	Weak transcription	Spleen	Spleen
8	chr3:133560000-133572200	Weak transcription	Brain Anterior Caudate	brain
9	chr3:133560400-133587000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:133560800-133572200	Weak transcription	Fetal Brain Female	brain
11	chr3:133562800-133572800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:133563400-133572200	Weak transcription	Left Ventricle	heart
13	chr3:133564400-133575200	Weak transcription	Aorta	Aorta
14	chr3:133564400-133578600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:133564400-133587200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:133566800-133572200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:133567200-133577600	Enhancers	K562	blood
18	chr3:133569000-133572400	Weak transcription	NHDF-Ad	bronchial
19	chr3:133570400-133573200	Enhancers	Fetal Heart	heart
20	chr3:133570800-133573200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:133570800-133573400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:133571000-133573000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:133571200-133577000	Enhancers	GM12878-XiMat	blood
24	chr3:133571600-133572400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:133571600-133574800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:133571800-133574800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:133571800-133575400	Enhancers	Brain Germinal Matrix	brain
28	chr3:133572000-133572400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:133572000-133572400	Enhancers	Stomach Mucosa	stomach
30	chr3:133572000-133573400	Enhancers	Placenta	Placenta
31	chr3:133572000-133574400	Enhancers	Right Atrium	heart
32	chr3:133572000-133575400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:133572000-133576000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links