Variant report

Variant	rs203327
Chromosome Location	chr12:120205095-120205096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120197756..120201028-chr12:120204910..120208233,3	K562	blood:
2	chr12:120204046..120205814-chr12:120206318..120209149,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10129003	0.82[ASN][1000 genomes]
rs10849696	0.82[ASN][1000 genomes]
rs1318272	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs175877	0.94[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs175879	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs202984	0.96[ASN][1000 genomes]
rs202985	0.83[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs203326	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs203328	0.96[ASN][1000 genomes]
rs203329	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[ASN][1000 genomes]
rs203330	0.82[ASN][1000 genomes]
rs203331	0.83[CHB][hapmap]
rs203332	0.84[CHD][hapmap]
rs203366	0.82[CHD][hapmap]
rs2074052	0.83[CHB][hapmap];0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs2285595	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2393550	0.95[TSI][hapmap]
rs278103	0.84[EUR][1000 genomes]
rs278108	0.91[CHB][hapmap];0.95[GIH][hapmap]
rs278109	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs278111	0.84[CEU][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs278115	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs278117	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs278118	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs278124	1.00[ASW][hapmap]
rs278128	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs278129	0.83[CHB][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs278130	0.89[CEU][hapmap];0.83[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs278131	0.83[CHB][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs278132	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278133	0.93[GIH][hapmap]
rs278135	0.94[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278136	0.93[GIH][hapmap]
rs278137	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278139	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278141	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278142	0.95[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2936830	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2936831	0.83[ASN][1000 genomes]
rs2952444	0.83[CHB][hapmap];0.95[CHD][hapmap]
rs2996027	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2996028	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2996029	0.87[CHB][hapmap]
rs2996030	0.83[ASN][1000 genomes]
rs3213625	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs3213626	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs385930	0.84[CHD][hapmap]
rs3956827	0.80[ASN][1000 genomes]
rs402811	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs404447	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4766946	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4766947	0.86[CHB][hapmap]
rs4767839	0.87[CHB][hapmap]
rs7131914	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7299963	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7961569	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs904654	0.85[JPT][hapmap]
rs904655	0.90[JPT][hapmap];0.80[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs203327	PRKAB1	cis	cerebellum	SCAN
rs203327	LRRC43	cis	parietal	SCAN
rs203327	CCDC60	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
2	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
4	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:120154800-120209600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:120156600-120221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:120172200-120218600	Weak transcription	Fetal Kidney	kidney
8	chr12:120177600-120205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:120178200-120205200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:120184000-120207600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:120184200-120224600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:120184400-120205200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:120184800-120205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:120185400-120227200	Strong transcription	Dnd41	blood
15	chr12:120185800-120214800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:120186000-120214600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:120186200-120205200	Strong transcription	Fetal Thymus	thymus
18	chr12:120187200-120209200	Weak transcription	Placenta	Placenta
19	chr12:120187600-120218600	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:120187800-120211200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:120188000-120228800	Weak transcription	HSMMtube	muscle
22	chr12:120188400-120205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:120188400-120210600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:120189400-120225600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:120190000-120244800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:120190200-120210400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:120190200-120226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:120191200-120235600	Weak transcription	Colonic Mucosa	Colon
29	chr12:120192200-120207800	Weak transcription	HSMM	muscle
30	chr12:120193400-120205400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:120193800-120208200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:120195600-120223000	Weak transcription	Spleen	Spleen
33	chr12:120196800-120207800	Weak transcription	NH-A	brain
34	chr12:120197000-120207200	Weak transcription	HUVEC	blood vessel
35	chr12:120197000-120218600	Weak transcription	NHEK	skin
36	chr12:120197200-120207600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:120197200-120208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:120197200-120209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:120197200-120209000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:120197200-120209600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:120197200-120223200	Weak transcription	Gastric	stomach
42	chr12:120197400-120208600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:120197400-120209400	Weak transcription	Brain Germinal Matrix	brain
44	chr12:120198600-120209200	Weak transcription	Fetal Lung	lung
45	chr12:120198800-120207800	Weak transcription	HepG2	liver
46	chr12:120199000-120208200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:120199200-120241000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr12:120199800-120206600	Weak transcription	GM12878-XiMat	blood
49	chr12:120200000-120206600	Weak transcription	Osteobl	bone
50	chr12:120200000-120208800	Weak transcription	Primary T cells from cord blood	blood

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