Variant report

Variant	rs12317646
Chromosome Location	chr12:50084470-50084471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50077862..50079872-chr12:50080970..50084621,3	K562	blood:
2	chr12:50076925..50079550-chr12:50081857..50084496,3	K562	blood:
3	chr12:50080143..50085132-chr12:50089232..50093203,6	K562	blood:
4	chr12:50067484..50070430-chr12:50082743..50084854,2	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1049986	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875968	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169065	0.82[EUR][1000 genomes]
rs11169069	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169070	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169073	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169076	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169081	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169082	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169092	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169101	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169109	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169111	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169112	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169113	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169118	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169125	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169127	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169133	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169140	0.85[AMR][1000 genomes]
rs11615488	0.92[ASN][1000 genomes]
rs11833411	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296586	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299505	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12299513	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301824	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12303310	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304796	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12305460	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12308256	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309940	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311839	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12314795	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314878	0.83[ASN][1000 genomes]
rs12315224	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315791	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316284	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320556	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12321169	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12321819	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13066	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13906	0.83[ASN][1000 genomes]
rs1470906	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574326	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123808	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1902329	0.81[EUR][1000 genomes]
rs2005195	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241418	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278068	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278069	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278070	0.80[ASN][1000 genomes]
rs2303305	0.80[ASN][1000 genomes]
rs2336058	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878532	0.89[AMR][1000 genomes]
rs3815832	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3887728	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4045193	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073998	0.82[AMR][1000 genomes]
rs4133070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584654	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs52824916	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55853522	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57191490	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57342147	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57463238	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57916875	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58278271	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58446833	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59233136	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59849800	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59940006	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60121503	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60402517	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61512987	0.85[AMR][1000 genomes]
rs61616163	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61620972	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710637	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131915	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7136052	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137976	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296281	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299002	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301209	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7306877	0.83[ASN][1000 genomes]
rs7309607	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7312658	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7313738	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305008	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305012	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305085	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73305098	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309030	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74089182	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7688	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952734	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953911	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955586	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956089	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956181	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962645	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962863	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7963954	0.89[ASN][1000 genomes]
rs7965658	0.81[ASN][1000 genomes]
rs7967624	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970241	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7973389	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975599	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7977389	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979262	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980979	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876889	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs897056	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804749	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804971	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50077000-50084600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:50077400-50086200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:50078000-50087600	Weak transcription	Placenta	Placenta
4	chr12:50078000-50091000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:50078600-50090600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:50078600-50092200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:50078800-50084600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:50078800-50088200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:50078800-50088200	Weak transcription	HSMM	muscle
10	chr12:50078800-50091800	Weak transcription	NH-A	brain
11	chr12:50078800-50092400	Weak transcription	NHLF	lung
12	chr12:50079000-50088000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:50079000-50088000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:50079000-50092000	Weak transcription	Small Intestine	intestine
15	chr12:50079000-50096200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:50079200-50090600	Weak transcription	Ovary	ovary
17	chr12:50079200-50091000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:50079200-50092400	Weak transcription	Fetal Stomach	stomach
19	chr12:50079200-50092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:50079400-50088000	Weak transcription	HSMMtube	muscle
21	chr12:50079400-50090600	Weak transcription	Psoas Muscle	Psoas
22	chr12:50080800-50092800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:50081600-50085600	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:50082000-50085200	Enhancers	Primary T cells from cord blood	blood
25	chr12:50082000-50088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:50082000-50088200	Weak transcription	Osteobl	bone
27	chr12:50082000-50092800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:50082200-50084600	Weak transcription	Right Ventricle	heart
29	chr12:50082200-50090000	Weak transcription	Left Ventricle	heart
30	chr12:50082200-50092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:50082200-50092800	Weak transcription	Aorta	Aorta
32	chr12:50082400-50085400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:50082400-50086200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:50082400-50086400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:50082600-50084800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:50082600-50085000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:50082600-50085000	Enhancers	Primary B cells from cord blood	blood
38	chr12:50082800-50085400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:50083000-50084800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:50083000-50085200	Flanking Active TSS	GM12878-XiMat	blood
41	chr12:50083000-50085400	Enhancers	Fetal Muscle Leg	muscle
42	chr12:50083200-50085200	Enhancers	Fetal Lung	lung
43	chr12:50083200-50085800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:50083400-50085000	Enhancers	Stomach Mucosa	stomach
45	chr12:50083400-50085600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:50083400-50092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:50083600-50084800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:50083600-50089200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:50083600-50092800	Weak transcription	Lung	lung
50	chr12:50083800-50084600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links