Variant report

Variant	rs7304889
Chromosome Location	chr12:117508909-117508910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117507986..117510035-chr20:49345785..49347332,2	MCF-7	breast:
2	chr12:117507312..117509184-chr12:117522050..117524792,2	K562	blood:
3	chr12:117501229..117502760-chr12:117508705..117510581,2	K562	blood:
4	chr12:117478764..117480337-chr12:117507542..117509492,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10744889	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744890	1.00[CEU][hapmap];0.80[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10774901	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10850754	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1106277	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12423796	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1546246	0.96[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs1546247	0.88[EUR][1000 genomes]
rs1546248	0.88[EUR][1000 genomes]
rs2173651	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2291911	0.83[MEX][hapmap]
rs4341616	0.89[EUR][1000 genomes]
rs7308236	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7959367	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7963451	0.89[EUR][1000 genomes]
rs7964686	0.88[MEX][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7304889	TESC	cis	parietal	SCAN
rs7304889	BRAP	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:117498800-117514600	Strong transcription	HepG2	liver
3	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117499600-117512400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:117501200-117510000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:117501600-117514800	Weak transcription	Spleen	Spleen
8	chr12:117502000-117510600	Weak transcription	Thymus	Thymus
9	chr12:117502400-117514600	Weak transcription	Primary T cells from cord blood	blood
10	chr12:117502800-117515000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:117503000-117514600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:117503200-117515000	Weak transcription	Stomach Mucosa	stomach
13	chr12:117505400-117514800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:117505800-117514800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:117506000-117509400	Weak transcription	Right Ventricle	heart
16	chr12:117506400-117509400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:117506400-117509800	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:117507000-117509400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:117507200-117509400	Enhancers	Fetal Heart	heart
20	chr12:117507600-117509200	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:117507600-117509800	Strong transcription	A549	lung
22	chr12:117507800-117509200	Strong transcription	Fetal Stomach	stomach
23	chr12:117508000-117509000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:117508000-117509200	Enhancers	Fetal Muscle Leg	muscle
25	chr12:117508000-117509200	Enhancers	GM12878-XiMat	blood
26	chr12:117508000-117509400	Genic enhancers	Dnd41	blood
27	chr12:117508000-117515000	Weak transcription	K562	blood
28	chr12:117508200-117514200	Weak transcription	Right Atrium	heart
29	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:117508400-117509200	Weak transcription	Pancreas	Pancrea
31	chr12:117508400-117512600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:117508400-117513200	Weak transcription	Left Ventricle	heart
33	chr12:117508600-117509400	Weak transcription	Gastric	stomach
34	chr12:117508600-117509600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:117508600-117509800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:117508600-117514400	Weak transcription	Fetal Thymus	thymus
37	chr12:117508600-117514600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:117508600-117520200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:117508800-117509000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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