Variant report

Variant	rs759312
Chromosome Location	chr12:4226755-4226756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10774193	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10774197	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10848978	0.84[EUR][1000 genomes]
rs10848979	0.86[EUR][1000 genomes]
rs10848981	1.00[CEU][hapmap];0.87[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10848982	0.96[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10848983	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs10848984	0.85[EUR][1000 genomes]
rs10848985	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11062999	0.83[EUR][1000 genomes]
rs11063000	0.83[EUR][1000 genomes]
rs11063002	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063003	0.99[EUR][1000 genomes]
rs11063004	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs11063007	0.86[EUR][1000 genomes]
rs11063008	0.87[EUR][1000 genomes]
rs11063009	0.88[EUR][1000 genomes]
rs12228949	0.83[EUR][1000 genomes]
rs12229320	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs12230013	0.83[EUR][1000 genomes]
rs12579541	0.88[EUR][1000 genomes]
rs12579556	0.88[EUR][1000 genomes]
rs12579813	0.88[EUR][1000 genomes]
rs2003578	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2003579	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2098332	0.81[EUR][1000 genomes]
rs2110592	0.88[EUR][1000 genomes]
rs2160160	0.87[EUR][1000 genomes]
rs2160161	0.88[EUR][1000 genomes]
rs2247533	0.83[EUR][1000 genomes]
rs2358593	0.83[EUR][1000 genomes]
rs2358836	0.88[EUR][1000 genomes]
rs2358837	0.88[EUR][1000 genomes]
rs2724204	0.85[EUR][1000 genomes]
rs3889565	0.82[EUR][1000 genomes]
rs4765769	0.84[EUR][1000 genomes]
rs4766207	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs4766208	0.87[EUR][1000 genomes]
rs4766209	0.88[EUR][1000 genomes]
rs4766211	0.88[EUR][1000 genomes]
rs58334161	0.88[EUR][1000 genomes]
rs60789908	0.83[EUR][1000 genomes]
rs6489518	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7136346	0.88[EUR][1000 genomes]
rs741244	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs741245	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs759306	0.86[EUR][1000 genomes]
rs7967520	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7969060	0.83[EUR][1000 genomes]
rs873613	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9634153	0.88[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4219800-4228000	Enhancers	Fetal Muscle Leg	muscle
2	chr12:4223800-4227200	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:4223800-4227400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:4223800-4227600	Enhancers	Primary T cells from cord blood	blood
5	chr12:4223800-4228000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:4223800-4228200	Enhancers	HMEC	breast
7	chr12:4224000-4226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:4224000-4227000	Enhancers	Primary B cells from cord blood	blood
9	chr12:4224000-4227000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:4224000-4227400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:4224000-4228800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:4224000-4229000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:4224000-4229000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:4224200-4226800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:4224200-4227200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:4224200-4227600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:4224200-4228200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:4224200-4228800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:4224200-4228800	Enhancers	Fetal Thymus	thymus
20	chr12:4224200-4230000	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:4224400-4227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:4224600-4228000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:4224600-4228200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:4224600-4228200	Enhancers	Fetal Intestine Large	intestine
25	chr12:4224600-4229000	Flanking Active TSS	GM12878-XiMat	blood
26	chr12:4224800-4227000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:4224800-4227400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:4224800-4228000	Enhancers	Fetal Intestine Small	intestine
29	chr12:4224800-4228000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr12:4224800-4228200	Enhancers	Fetal Stomach	stomach
31	chr12:4224800-4228200	Enhancers	Spleen	Spleen
32	chr12:4225000-4227000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr12:4225000-4227200	Enhancers	Esophagus	oesophagus
34	chr12:4225200-4226800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:4225200-4227000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:4225200-4227800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:4225400-4227000	Enhancers	NH-A	brain
38	chr12:4225400-4227200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:4225400-4227200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr12:4225400-4227200	Enhancers	NHLF	lung
41	chr12:4225400-4227400	Enhancers	Left Ventricle	heart
42	chr12:4225400-4227400	Enhancers	Right Atrium	heart
43	chr12:4225400-4227800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr12:4225400-4228000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:4225600-4226800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:4225600-4227000	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:4225600-4227400	Enhancers	Right Ventricle	heart
48	chr12:4225600-4228800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:4225800-4226800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:4225800-4226800	Enhancers	Monocytes-CD14+_RO01746	blood

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