Variant report

Variant	rs12821270
Chromosome Location	chr12:50910923-50910924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50901773..50903761-chr12:50910341..50913326,3	MCF-7	breast:
2	chr12:50909307..50911396-chr12:50923747..50926654,2	K562	blood:
3	chr12:50906998..50909995-chr12:50910292..50911988,2	MCF-7	breast:
4	chr12:50898826..50901477-chr12:50910809..50913079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10747586	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783367	0.90[EUR][1000 genomes]
rs10783377	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783380	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.90[EUR][1000 genomes]
rs10876044	0.90[EUR][1000 genomes]
rs10876046	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109726	1.00[ASN][1000 genomes]
rs11609231	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609506	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11611288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614911	0.89[EUR][1000 genomes]
rs11832315	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250751	1.00[ASN][1000 genomes]
rs2250752	1.00[ASN][1000 genomes]
rs2251024	1.00[ASN][1000 genomes]
rs2251603	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684889	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2684898	1.00[ASN][1000 genomes]
rs2684900	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684901	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700479	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2700485	1.00[ASN][1000 genomes]
rs2731434	1.00[ASN][1000 genomes]
rs2731439	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2731440	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731442	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731443	1.00[ASN][1000 genomes]
rs4768885	0.88[EUR][1000 genomes]
rs4768886	0.88[EUR][1000 genomes]
rs55939211	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104942	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66597435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67701624	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68171620	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305655	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957060	0.86[EUR][1000 genomes]
rs7960015	1.00[ASN][1000 genomes]
rs7968440	1.00[ASN][1000 genomes]
rs7977690	1.00[ASN][1000 genomes]
rs7979165	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12821270	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50911000	Weak transcription	Colonic Mucosa	Colon
2	chr12:50900000-50911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
4	chr12:50900200-50911200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
7	chr12:50900800-50911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:50901000-50911000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:50901600-50915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:50901800-50911000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:50902200-50911200	Weak transcription	Dnd41	blood
13	chr12:50902400-50911000	Weak transcription	Fetal Lung	lung
14	chr12:50902600-50911200	Weak transcription	Fetal Brain Male	brain
15	chr12:50902800-50912000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:50903200-50911200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:50903600-50911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:50903600-50911400	Weak transcription	Psoas Muscle	Psoas
20	chr12:50903600-50922800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:50903800-50911000	Weak transcription	Fetal Brain Female	brain
22	chr12:50904200-50911000	Weak transcription	Hela-S3	cervix
23	chr12:50904200-50911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:50904400-50911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:50904400-50911000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:50904400-50911000	Weak transcription	HSMMtube	muscle
27	chr12:50904400-50911200	Weak transcription	A549	lung
28	chr12:50904400-50911400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:50906400-50911200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:50906400-50915600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:50906400-50916400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr12:50906800-50911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:50907000-50911800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:50907200-50911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:50907200-50911600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:50907200-50915200	Enhancers	HepG2	liver
37	chr12:50907400-50911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:50907400-50911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:50907400-50911400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:50907400-50911400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:50907400-50917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:50907800-50912800	Enhancers	Spleen	Spleen
43	chr12:50907800-50913200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr12:50908200-50911800	Enhancers	Fetal Thymus	thymus
45	chr12:50908200-50912600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:50908600-50911200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:50908800-50911000	Enhancers	GM12878-XiMat	blood
48	chr12:50908800-50915600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:50909000-50911200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:50909000-50911200	Enhancers	Primary T helper cells PMA-I stimulated	--

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