Variant report

Variant	rs5753386
Chromosome Location	chr22:31309336-31309337
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10854601	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089481	0.83[AMR][1000 genomes]
rs11089484	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11703597	0.81[EUR][1000 genomes]
rs11705565	0.84[AMR][1000 genomes]
rs12166294	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12167144	0.82[AMR][1000 genomes]
rs12168307	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1807686	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016654	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2072132	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2079221	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240175	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240176	0.82[EUR][1000 genomes]
rs2240177	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240179	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240180	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240183	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3747151	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3788426	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804084	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804085	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3827330	0.83[EUR][1000 genomes]
rs3948685	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4820916	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820921	0.83[EUR][1000 genomes]
rs4820923	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820925	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820926	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749185	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749189	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5749192	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749199	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749201	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753373	0.81[AMR][1000 genomes]
rs5753378	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753379	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753383	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753389	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753394	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753396	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753407	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753408	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753410	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997802	0.81[EUR][1000 genomes]
rs5997807	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997830	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997838	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6518729	0.83[EUR][1000 genomes]
rs722683	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722684	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7284767	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7289831	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7290078	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7291199	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7291361	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7291471	0.83[EUR][1000 genomes]
rs737924	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737926	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737927	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs739896	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8004	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8135974	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9609183	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9609185	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9609188	0.80[AMR][1000 genomes];0.82[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs5753386	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5753386	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5753386	MORC2-AS1	cis	Thyroid	GTEx
rs5753386	MORC2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
4	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:31290600-31316200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:31291000-31316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:31291200-31316200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr22:31291400-31315400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr22:31293800-31310200	Weak transcription	Hela-S3	cervix
11	chr22:31294800-31309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:31295400-31321000	Weak transcription	HSMMtube	muscle
13	chr22:31296800-31310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:31297400-31309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:31299200-31309800	Weak transcription	Primary B cells from cord blood	blood
16	chr22:31299600-31316600	Weak transcription	NHEK	skin
17	chr22:31299800-31317000	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31300200-31316200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:31300200-31320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:31300400-31311600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:31300400-31311800	Weak transcription	Adipose Nuclei	Adipose
22	chr22:31300800-31311600	Weak transcription	Liver	Liver
23	chr22:31304200-31317200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:31304200-31318000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:31304200-31320800	Weak transcription	Gastric	stomach
26	chr22:31304400-31317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:31304600-31320400	Weak transcription	Lung	lung
28	chr22:31304800-31316000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr22:31305600-31317400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:31305600-31319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:31305600-31320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:31305800-31317200	Weak transcription	Ovary	ovary
33	chr22:31305800-31317200	Weak transcription	Pancreas	Pancrea
34	chr22:31305800-31318200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:31306000-31310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:31306000-31319600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:31306200-31309400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:31306600-31309400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:31306600-31311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:31306800-31315400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr22:31306800-31320200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:31306800-31320200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:31307400-31311800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:31307400-31315200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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