Variant report

Variant	rs5753378
Chromosome Location	chr22:31295997-31295998
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10854601	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11089481	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11703597	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11705565	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12166294	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12167144	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12168307	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1807686	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2072132	0.82[EUR][1000 genomes]
rs2240175	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2240176	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2240177	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2240179	0.81[AMR][1000 genomes]
rs2240180	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2240181	0.92[EUR][1000 genomes]
rs2240183	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3747151	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3788426	0.81[AMR][1000 genomes]
rs3804084	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3804085	0.82[AMR][1000 genomes]
rs3827330	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4820916	0.82[AMR][1000 genomes]
rs4820921	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5749189	0.83[AMR][1000 genomes]
rs5749192	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749199	0.80[AMR][1000 genomes]
rs5749201	0.80[AMR][1000 genomes]
rs5753373	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753377	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753383	0.82[EUR][1000 genomes]
rs5753386	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753389	0.82[AMR][1000 genomes]
rs5753394	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753396	0.86[AMR][1000 genomes]
rs5753407	0.81[AMR][1000 genomes]
rs5753408	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5997802	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5997807	0.84[AMR][1000 genomes]
rs5997830	0.81[AMR][1000 genomes]
rs5997837	0.87[EUR][1000 genomes]
rs5997842	0.82[EUR][1000 genomes]
rs7284474	0.88[EUR][1000 genomes]
rs7284767	0.80[AMR][1000 genomes]
rs7290078	0.86[AMR][1000 genomes]
rs7291199	0.81[AMR][1000 genomes]
rs7291361	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7291471	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs737924	0.81[AMR][1000 genomes]
rs737926	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs737927	0.82[EUR][1000 genomes]
rs739896	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8004	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8139350	0.93[EUR][1000 genomes]
rs8140448	0.89[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs5753378	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs5753378	MORC2-AS1	cis	Nerve Tibial	GTEx
rs5753378	MORC2-AS1	cis	Whole Blood	GTEx
rs5753378	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5753378	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5753378	MORC2-AS1	cis	Thyroid	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31278800-31301600	Weak transcription	A549	lung
6	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
7	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
11	chr22:31286400-31299200	Weak transcription	Liver	Liver
12	chr22:31286400-31304000	Weak transcription	Ovary	ovary
13	chr22:31287200-31299200	Weak transcription	Esophagus	oesophagus
14	chr22:31287400-31300400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
16	chr22:31289400-31298600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31290000-31305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:31290000-31305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:31290200-31298200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:31290200-31298600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:31290200-31299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:31290200-31303800	Weak transcription	Gastric	stomach
23	chr22:31290200-31305000	Weak transcription	Pancreas	Pancrea
24	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:31290600-31298400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31290600-31299400	Weak transcription	Right Ventricle	heart
28	chr22:31290600-31316200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:31291000-31316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:31291200-31297800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:31291200-31298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:31291200-31298200	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:31291200-31298400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:31291200-31298400	Weak transcription	Brain Angular Gyrus	brain
36	chr22:31291200-31298600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr22:31291200-31299200	Weak transcription	Primary T cells from cord blood	blood
38	chr22:31291200-31299200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr22:31291200-31300000	Weak transcription	NHDF-Ad	bronchial
40	chr22:31291200-31302200	Weak transcription	Brain Substantia Nigra	brain
41	chr22:31291200-31302600	Weak transcription	K562	blood
42	chr22:31291200-31316200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr22:31291400-31297400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:31291400-31297800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:31291400-31298800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:31291400-31301800	Weak transcription	Placenta	Placenta
47	chr22:31291400-31315400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr22:31292400-31301400	Strong transcription	Fetal Intestine Large	intestine
49	chr22:31293800-31310200	Weak transcription	Hela-S3	cervix
50	chr22:31294000-31297000	ZNF genes & repeats	Fetal Brain Female	brain

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