Variant report

Variant	rs12314878
Chromosome Location	chr12:49942208-49942209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49931658..49934528-chr12:49938714..49943333,4	MCF-7	breast:
2	chr12:49939604..49941296-chr12:49942002..49944105,2	K562	blood:
3	chr12:49731041..49732685-chr12:49940716..49942634,2	MCF-7	breast:
4	chr12:49758090..49762166-chr12:49940541..49945539,5	K562	blood:
5	chr12:49941038..49943028-chr12:49974418..49976418,2	MCF-7	breast:
6	chr12:49758090..49761584-chr12:49941577..49946568,5	K562	blood:
7	chr12:49939089..49944852-chr12:49945260..49949994,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135519	Chromatin interaction
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1049986	0.81[ASN][1000 genomes]
rs10875964	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875968	0.81[ASN][1000 genomes]
rs11169063	0.86[ASN][1000 genomes]
rs11169065	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169069	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169070	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169073	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169076	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169080	0.89[ASN][1000 genomes]
rs11169081	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169082	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169092	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169097	0.94[ASN][1000 genomes]
rs11169104	0.83[ASN][1000 genomes]
rs11169106	0.83[ASN][1000 genomes]
rs11169109	0.83[ASN][1000 genomes]
rs11169111	0.83[ASN][1000 genomes]
rs11169112	0.83[ASN][1000 genomes]
rs11169118	0.83[ASN][1000 genomes]
rs11169133	0.83[ASN][1000 genomes]
rs11833411	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11834380	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12296586	0.83[ASN][1000 genomes]
rs12299505	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12299513	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12303310	0.83[ASN][1000 genomes]
rs12308256	0.81[ASN][1000 genomes]
rs12309940	0.80[EUR][1000 genomes]
rs12310510	0.83[ASN][1000 genomes]
rs12311527	0.94[ASN][1000 genomes]
rs12311839	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314795	0.83[ASN][1000 genomes]
rs12315224	0.83[ASN][1000 genomes]
rs12315791	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12316284	0.81[ASN][1000 genomes]
rs12317646	0.83[ASN][1000 genomes]
rs12320556	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321819	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13906	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470906	0.83[ASN][1000 genomes]
rs1574326	0.83[ASN][1000 genomes]
rs17123808	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902329	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1902330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005195	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241418	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278068	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278069	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278070	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303305	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2336058	0.83[ASN][1000 genomes]
rs2878532	0.84[ASN][1000 genomes]
rs3815832	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887727	0.89[ASN][1000 genomes]
rs3887728	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4045193	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073998	0.81[ASN][1000 genomes]
rs4133070	0.83[ASN][1000 genomes]
rs4563	0.83[ASN][1000 genomes]
rs4584654	0.83[ASN][1000 genomes]
rs52824916	0.97[ASN][1000 genomes]
rs55853522	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57191490	0.80[ASN][1000 genomes]
rs57342147	0.83[ASN][1000 genomes]
rs57916875	0.97[ASN][1000 genomes]
rs58278271	0.91[ASN][1000 genomes]
rs59233136	0.81[ASN][1000 genomes]
rs59940006	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60121503	0.80[ASN][1000 genomes]
rs60402517	0.80[EUR][1000 genomes]
rs61512987	0.84[ASN][1000 genomes]
rs61620972	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61710637	0.83[ASN][1000 genomes]
rs6580719	0.83[ASN][1000 genomes]
rs7131915	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132792	0.94[ASN][1000 genomes]
rs7136052	0.83[ASN][1000 genomes]
rs7137976	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296281	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299002	0.83[ASN][1000 genomes]
rs7301209	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309607	0.81[ASN][1000 genomes]
rs7312658	0.81[ASN][1000 genomes]
rs7313738	0.83[ASN][1000 genomes]
rs73305008	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305012	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305085	0.81[ASN][1000 genomes]
rs73305098	0.83[ASN][1000 genomes]
rs73306808	0.83[ASN][1000 genomes]
rs74089182	0.80[ASN][1000 genomes]
rs7688	0.81[ASN][1000 genomes]
rs7952734	0.83[ASN][1000 genomes]
rs7952938	0.86[ASN][1000 genomes]
rs7953911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954994	0.83[ASN][1000 genomes]
rs7955586	0.81[ASN][1000 genomes]
rs7956089	0.83[ASN][1000 genomes]
rs7956181	0.83[ASN][1000 genomes]
rs7962645	0.83[ASN][1000 genomes]
rs7965658	0.97[ASN][1000 genomes]
rs7967624	0.81[ASN][1000 genomes]
rs7970241	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973389	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975599	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977389	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979262	0.83[ASN][1000 genomes]
rs7979285	0.89[ASN][1000 genomes]
rs7980979	0.83[ASN][1000 genomes]
rs8626	0.84[ASN][1000 genomes]
rs876889	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897056	0.81[ASN][1000 genomes]
rs933738	0.94[ASN][1000 genomes]
rs9804749	0.83[ASN][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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49933000-49942600	Weak transcription	Pancreas	Pancrea
2	chr12:49933400-49942400	Weak transcription	Right Atrium	heart
3	chr12:49938800-49942400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:49940200-49942600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:49940400-49942600	Bivalent Enhancer	NHEK	skin
6	chr12:49940400-49943000	Enhancers	HMEC	breast
7	chr12:49941000-49942400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:49941400-49942600	Enhancers	HepG2	liver
9	chr12:49941400-49942800	Enhancers	Spleen	Spleen
10	chr12:49941600-49942800	Bivalent Enhancer	Esophagus	oesophagus
11	chr12:49941800-49942400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:49941800-49942400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:49941800-49942600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:49941800-49942800	Bivalent Enhancer	Fetal Brain Male	brain
15	chr12:49941800-49942800	Enhancers	Gastric	stomach
16	chr12:49942000-49942400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr12:49942000-49942400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr12:49942000-49942400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:49942000-49942400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:49942000-49942400	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:49942000-49942400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:49942000-49942600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:49942000-49942600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr12:49942000-49942600	Enhancers	Right Ventricle	heart
25	chr12:49942000-49943400	Enhancers	Lung	lung
26	chr12:49942000-49943600	Enhancers	Fetal Heart	heart
27	chr12:49942200-49942400	Bivalent Enhancer	Primary T cells from cord blood	blood
28	chr12:49942200-49942400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
29	chr12:49942200-49942400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr12:49942200-49942400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:49942200-49942400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr12:49942200-49942400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:49942200-49942400	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr12:49942200-49942400	Enhancers	Brain Angular Gyrus	brain
35	chr12:49942200-49942400	Enhancers	Brain Anterior Caudate	brain
36	chr12:49942200-49942400	Enhancers	Brain Germinal Matrix	brain
37	chr12:49942200-49942400	Bivalent Enhancer	Brain Hippocampus Middle	brain
38	chr12:49942200-49942400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
39	chr12:49942200-49942400	Enhancers	Fetal Brain Female	brain
40	chr12:49942200-49942400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr12:49942200-49942400	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr12:49942200-49942400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr12:49942200-49942400	Enhancers	Ovary	ovary
44	chr12:49942200-49942400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr12:49942200-49942400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr12:49942200-49942400	Bivalent Enhancer	Small Intestine	intestine
47	chr12:49942200-49942400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr12:49942200-49942600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:49942200-49942600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr12:49942200-49942600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood

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