Variant report

Variant	rs7305948
Chromosome Location	chr12:117505301-117505302
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	chr12:117498452..117500621-chr12:117503397..117505307,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11838192	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16947275	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16947281	0.85[EUR][1000 genomes]
rs2173653	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270794	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3782193	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59348125	0.83[ASN][1000 genomes]
rs73405256	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73405273	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954600	0.83[ASN][1000 genomes]
rs7962339	0.83[ASN][1000 genomes]
rs7973925	0.83[ASN][1000 genomes]
rs7979277	0.83[ASN][1000 genomes]
rs9308	0.83[ASN][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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7305948	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:117498800-117514600	Strong transcription	HepG2	liver
4	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:117499200-117507600	Weak transcription	Right Atrium	heart
6	chr12:117499200-117507800	Weak transcription	Lung	lung
7	chr12:117499600-117506800	Weak transcription	K562	blood
8	chr12:117499600-117512400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:117501000-117507400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:117501200-117510000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:117501600-117505400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:117501600-117505400	Enhancers	Fetal Thymus	thymus
14	chr12:117501600-117505400	Weak transcription	Right Ventricle	heart
15	chr12:117501600-117505400	Enhancers	Dnd41	blood
16	chr12:117501600-117514800	Weak transcription	Spleen	Spleen
17	chr12:117502000-117510600	Weak transcription	Thymus	Thymus
18	chr12:117502400-117507000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:117502400-117514600	Weak transcription	Primary T cells from cord blood	blood
20	chr12:117502600-117508000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:117502800-117515000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:117503000-117508000	Weak transcription	GM12878-XiMat	blood
23	chr12:117503000-117514600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:117503200-117506600	Weak transcription	A549	lung
25	chr12:117503200-117507400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:117503200-117515000	Weak transcription	Stomach Mucosa	stomach
27	chr12:117503400-117508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:117503400-117508000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:117503600-117505400	Enhancers	Primary B cells from cord blood	blood
30	chr12:117503800-117505400	Enhancers	Left Ventricle	heart
31	chr12:117503800-117506600	Enhancers	Fetal Heart	heart
32	chr12:117503800-117507800	Weak transcription	Pancreas	Pancrea
33	chr12:117504000-117506400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:117504000-117506400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:117504000-117508000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:117504400-117507800	Weak transcription	Fetal Stomach	stomach
37	chr12:117504800-117505400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:117504800-117505600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:117505000-117505600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:117505000-117508000	Weak transcription	Placenta	Placenta
41	chr12:117505200-117505600	Weak transcription	Brain Anterior Caudate	brain

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