Variant report

Variant	rs7955319
Chromosome Location	chr12:117514339-117514340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117512300..117515026-chr12:117517081..117519367,2	MCF-7	breast:
2	chr12:117513474..117515801-chr12:117535045..117537762,2	K562	blood:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12298209	0.81[AFR][1000 genomes]
rs12304249	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308220	1.00[AMR][1000 genomes]
rs12311213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312581	0.93[AFR][1000 genomes]
rs12317406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320443	0.89[AFR][1000 genomes]
rs7358631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7955727	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963339	0.96[AFR][1000 genomes];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	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117498800-117514600	Strong transcription	HepG2	liver
2	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:117501600-117514800	Weak transcription	Spleen	Spleen
5	chr12:117502400-117514600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:117502800-117515000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:117503000-117514600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:117503200-117515000	Weak transcription	Stomach Mucosa	stomach
9	chr12:117505400-117514800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:117505800-117514800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:117508000-117515000	Weak transcription	K562	blood
12	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:117508600-117514400	Weak transcription	Fetal Thymus	thymus
14	chr12:117508600-117514600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:117508600-117520200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:117509800-117514400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:117509800-117514600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:117509800-117521000	Weak transcription	A549	lung
19	chr12:117510800-117518600	Weak transcription	Thymus	Thymus
20	chr12:117511600-117515000	Weak transcription	Gastric	stomach
21	chr12:117512000-117514400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:117512600-117514600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:117512600-117514800	Weak transcription	Ovary	ovary
24	chr12:117513200-117515200	Enhancers	Left Ventricle	heart
25	chr12:117513400-117514800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:117513600-117514600	Weak transcription	Fetal Stomach	stomach
27	chr12:117514000-117514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:117514000-117514800	Enhancers	Dnd41	blood
29	chr12:117514000-117515200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:117514000-117515400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:117514000-117515400	Enhancers	Fetal Heart	heart
32	chr12:117514000-117515400	Genic enhancers	Pancreas	Pancrea
33	chr12:117514200-117515000	Enhancers	Lung	lung
34	chr12:117514200-117515200	Enhancers	Right Atrium	heart
35	chr12:117514200-117515400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:117514200-117515400	Enhancers	Placenta	Placenta
37	chr12:117514200-117515600	Enhancers	Right Ventricle	heart

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