Variant report

Variant	rs12056486
Chromosome Location	chr8:54665987-54665988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1031979	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1031980	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10435587	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11994467	0.88[ASN][1000 genomes]
rs11996300	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12056719	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12234972	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13276766	0.85[ASN][1000 genomes]
rs1552148	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919507	0.88[EUR][1000 genomes]
rs16919508	0.85[EUR][1000 genomes]
rs16919522	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919534	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919537	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919563	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919571	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919573	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1872063	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1905061	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2128150	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2170444	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2376011	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3735831	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757954	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41321146	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236945	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737192	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737518	0.85[EUR][1000 genomes]
rs4737554	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737558	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737753	0.84[EUR][1000 genomes]
rs4737761	0.84[EUR][1000 genomes]
rs4737764	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4737765	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737821	0.93[ASN][1000 genomes]
rs4737974	0.80[EUR][1000 genomes]
rs4738027	0.80[EUR][1000 genomes]
rs4738470	0.85[ASN][1000 genomes]
rs4738646	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738701	0.95[EUR][1000 genomes]
rs4738884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738916	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55682919	0.95[EUR][1000 genomes]
rs55876329	0.95[ASN][1000 genomes]
rs55964335	0.90[ASN][1000 genomes]
rs56818292	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56956173	0.80[EUR][1000 genomes]
rs56973376	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57071607	0.87[EUR][1000 genomes]
rs57550901	0.95[EUR][1000 genomes]
rs58473841	0.85[ASN][1000 genomes]
rs58558817	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58970885	0.85[EUR][1000 genomes]
rs61070518	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6473893	0.88[EUR][1000 genomes]
rs6984257	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986372	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6987427	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988009	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988082	0.95[EUR][1000 genomes]
rs6988808	0.87[EUR][1000 genomes]
rs6988812	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994851	0.90[EUR][1000 genomes]
rs6997003	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997127	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6999454	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005696	0.91[EUR][1000 genomes]
rs7006934	0.82[EUR][1000 genomes]
rs7009705	0.85[EUR][1000 genomes]
rs7018162	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73587624	0.84[ASN][1000 genomes]
rs73587627	0.85[ASN][1000 genomes]
rs73680321	0.80[EUR][1000 genomes]
rs73682549	0.88[EUR][1000 genomes]
rs73682551	0.88[EUR][1000 genomes]
rs73682552	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73682555	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73682568	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73682570	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7387704	0.81[ASN][1000 genomes]
rs7843701	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900163	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs958268	0.85[EUR][1000 genomes]
rs9643480	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643819	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643820	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
2	chr8:54645600-54671400	Weak transcription	NHLF	lung
3	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
4	chr8:54647200-54666600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:54647600-54666600	Weak transcription	A549	lung
6	chr8:54648600-54667200	Weak transcription	HSMMtube	muscle
7	chr8:54650200-54671000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
9	chr8:54651400-54670400	Weak transcription	Fetal Brain Male	brain
10	chr8:54652800-54673000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:54653400-54670000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:54655400-54669600	Weak transcription	Esophagus	oesophagus
13	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:54655600-54666800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:54655600-54666800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:54655600-54667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:54655600-54672400	Weak transcription	Fetal Heart	heart
18	chr8:54655800-54671000	Weak transcription	Fetal Brain Female	brain
19	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
20	chr8:54656200-54666400	Weak transcription	Placenta	Placenta
21	chr8:54656200-54666800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:54656400-54666000	Weak transcription	Fetal Stomach	stomach
23	chr8:54656400-54666000	Weak transcription	HSMM	muscle
24	chr8:54656400-54666600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:54656400-54666800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54656400-54667000	Weak transcription	Spleen	Spleen
27	chr8:54656400-54669600	Weak transcription	Gastric	stomach
28	chr8:54656400-54672600	Weak transcription	Small Intestine	intestine
29	chr8:54656600-54666400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:54656600-54676200	Weak transcription	Aorta	Aorta
31	chr8:54656800-54667000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:54656800-54669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:54656800-54680200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:54657000-54666000	Weak transcription	Thymus	Thymus
35	chr8:54657000-54666600	Weak transcription	Ovary	ovary
36	chr8:54657000-54672600	Weak transcription	HepG2	liver
37	chr8:54657200-54666600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:54657400-54666600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:54657400-54671000	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:54658400-54666400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:54658400-54667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:54658400-54670800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:54658400-54671000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:54658400-54679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:54658600-54671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:54658800-54671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:54658800-54671000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:54659400-54671000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:54659400-54671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:54660200-54669800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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