Variant report

Variant	rs60126805
Chromosome Location	chr5:108226128-108226129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10035944	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10037675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10039951	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10040085	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041657	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041659	0.86[EUR][1000 genomes]
rs10042152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050547	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10052208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052531	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053476	0.87[ASN][1000 genomes]
rs10054086	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10058035	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061362	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062211	0.86[EUR][1000 genomes]
rs10064960	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067117	0.82[EUR][1000 genomes]
rs10070327	0.87[EUR][1000 genomes]
rs10073473	0.87[ASN][1000 genomes]
rs10077177	0.87[ASN][1000 genomes]
rs10077917	0.87[ASN][1000 genomes]
rs10078143	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477428	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477429	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477430	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477432	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10477931	0.80[ASN][1000 genomes]
rs10477932	0.83[EUR][1000 genomes]
rs10477933	0.83[EUR][1000 genomes]
rs10477934	0.87[EUR][1000 genomes]
rs10477935	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11958426	1.00[ASN][1000 genomes]
rs12719099	0.87[ASN][1000 genomes]
rs13354622	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13355571	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13358881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360253	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13360598	0.87[ASN][1000 genomes]
rs13361128	0.87[ASN][1000 genomes]
rs1396444	0.86[EUR][1000 genomes]
rs1423459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161505	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17161540	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961616	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2009646	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2081127	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2081128	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2113001	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2229085	0.87[ASN][1000 genomes]
rs28396658	0.87[ASN][1000 genomes]
rs28415902	0.87[ASN][1000 genomes]
rs28460265	0.87[ASN][1000 genomes]
rs28521452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536717	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28612304	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631256	0.87[ASN][1000 genomes]
rs28633642	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28651469	0.93[ASN][1000 genomes]
rs28765243	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28862652	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2900036	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2900037	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35141056	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35464106	1.00[ASN][1000 genomes]
rs3805598	0.86[EUR][1000 genomes]
rs3805599	0.86[EUR][1000 genomes]
rs41508849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4361568	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4448048	0.86[EUR][1000 genomes]
rs4479887	0.84[EUR][1000 genomes]
rs4537096	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4560594	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560595	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019041	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56985651	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57561676	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57703314	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57719993	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57885979	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57908514	0.83[EUR][1000 genomes]
rs57928004	0.86[EUR][1000 genomes]
rs58193244	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58304901	0.83[EUR][1000 genomes]
rs58530168	0.83[EUR][1000 genomes]
rs59229445	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59297048	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59821709	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60618804	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61170909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360774	1.00[ASN][1000 genomes]
rs62360777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360778	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360779	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360784	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360790	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360791	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360793	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361335	0.83[EUR][1000 genomes]
rs62361336	0.83[EUR][1000 genomes]
rs62361337	0.83[EUR][1000 genomes]
rs62361338	0.82[EUR][1000 genomes]
rs62361341	0.86[EUR][1000 genomes]
rs62361342	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361343	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361344	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361345	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62363276	0.87[ASN][1000 genomes]
rs62363277	0.87[ASN][1000 genomes]
rs62363280	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62363281	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62363283	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363284	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363285	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363287	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363289	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62363290	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594342	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863046	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872127	1.00[ASN][1000 genomes]
rs6873130	1.00[ASN][1000 genomes]
rs6873917	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874497	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874773	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874968	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6875158	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6876542	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6876606	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6881932	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888173	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6889995	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890309	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894386	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6897096	0.87[ASN][1000 genomes]
rs6897329	0.87[ASN][1000 genomes]
rs6897572	0.87[ASN][1000 genomes]
rs7709144	0.93[ASN][1000 genomes]
rs7715658	0.86[EUR][1000 genomes]
rs7716358	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724385	0.87[EUR][1000 genomes]
rs7728920	0.86[EUR][1000 genomes]
rs889269	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9326749	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326750	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885265	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9885428	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv471039	chr5:108133967-108245089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108169400-108229200	Weak transcription	Fetal Stomach	stomach
2	chr5:108173400-108239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:108183800-108260400	Weak transcription	Ovary	ovary
4	chr5:108194600-108260000	Weak transcription	Fetal Intestine Large	intestine
5	chr5:108194800-108236200	Weak transcription	Hela-S3	cervix
6	chr5:108195200-108231600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:108195200-108231600	Weak transcription	Psoas Muscle	Psoas
8	chr5:108195200-108234400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:108196800-108230000	Weak transcription	Lung	lung
10	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:108198600-108229800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:108198600-108235000	Weak transcription	Fetal Kidney	kidney
13	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
14	chr5:108200200-108232600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:108200200-108246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:108202000-108229200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
18	chr5:108204400-108237800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:108205400-108230200	Weak transcription	Adipose Nuclei	Adipose
20	chr5:108205400-108241400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
22	chr5:108209400-108230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:108209800-108229800	Weak transcription	HSMM	muscle
24	chr5:108209800-108229800	Weak transcription	NHEK	skin
25	chr5:108209800-108234000	Weak transcription	HMEC	breast
26	chr5:108209800-108234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:108211000-108226800	Weak transcription	Small Intestine	intestine
28	chr5:108212800-108236200	Weak transcription	NHDF-Ad	bronchial
29	chr5:108214200-108272200	Weak transcription	Gastric	stomach
30	chr5:108217200-108233600	Weak transcription	Esophagus	oesophagus
31	chr5:108217200-108236600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:108217400-108229600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:108217400-108233200	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:108217400-108244200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:108217400-108253200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
37	chr5:108217800-108229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:108220800-108229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:108220800-108230000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:108221000-108236200	Weak transcription	NH-A	brain
41	chr5:108221000-108236400	Weak transcription	NHLF	lung
42	chr5:108221000-108241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:108221200-108230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:108221200-108234400	Weak transcription	HUVEC	blood vessel
45	chr5:108221200-108236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:108221200-108236200	Weak transcription	Osteobl	bone
47	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:108221600-108238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:108222400-108229200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:108223400-108236800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links