Variant report

Variant	rs73306808
Chromosome Location	chr12:50078632-50078633
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50076925..50079550-chr12:50081857..50084496,3	K562	blood:
2	chr12:49524036..49526411-chr12:50076772..50079161,2	K562	blood:
3	chr12:50076777..50080076-chr12:50133870..50137090,3	K562	blood:
4	chr12:50077862..50079872-chr12:50080970..50084621,3	K562	blood:
5	chr12:50065969..50068241-chr12:50076218..50078635,2	K562	blood:
6	chr12:50073941..50076090-chr12:50077061..50078707,2	MCF-7	breast:
7	chr12:50073624..50075414-chr12:50077463..50080015,2	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000123416	Chromatin interaction

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]
rs12317646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50068600-50083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:50070000-50083400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:50074000-50080600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:50074400-50081800	Weak transcription	Right Ventricle	heart
5	chr12:50074600-50079000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:50074600-50079400	Enhancers	GM12878-XiMat	blood
7	chr12:50075800-50082600	Weak transcription	Primary B cells from cord blood	blood
8	chr12:50076400-50079800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:50076600-50078800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:50076600-50078800	Enhancers	Primary T cells from cord blood	blood
11	chr12:50076600-50078800	Enhancers	Fetal Muscle Leg	muscle
12	chr12:50076600-50079000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:50076600-50079400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:50076800-50078800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:50076800-50078800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:50076800-50078800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:50076800-50078800	Enhancers	Right Atrium	heart
18	chr12:50076800-50079000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:50076800-50079200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:50076800-50079400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:50076800-50079400	Enhancers	HSMMtube	muscle
22	chr12:50076800-50079400	Enhancers	NHDF-Ad	bronchial
23	chr12:50077000-50079000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr12:50077000-50082800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:50077000-50084600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:50077400-50078800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50077400-50078800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:50077400-50078800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:50077400-50078800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:50077400-50078800	Enhancers	Stomach Smooth Muscle	stomach
31	chr12:50077400-50078800	Enhancers	Spleen	Spleen
32	chr12:50077400-50078800	Enhancers	Osteobl	bone
33	chr12:50077400-50079000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:50077400-50079000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:50077400-50079000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:50077400-50079000	Enhancers	Fetal Kidney	kidney
37	chr12:50077400-50079200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:50077400-50079200	Enhancers	Left Ventricle	heart
39	chr12:50077400-50079200	Enhancers	Ovary	ovary
40	chr12:50077400-50079400	Enhancers	Psoas Muscle	Psoas
41	chr12:50077400-50086200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:50077600-50079000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:50077600-50079000	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:50077600-50079400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:50077800-50078800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr12:50077800-50078800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:50077800-50078800	Enhancers	Fetal Lung	lung
48	chr12:50077800-50078800	Enhancers	Fetal Stomach	stomach
49	chr12:50077800-50079000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:50077800-50079200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links