Variant report

Variant	rs5749192
Chromosome Location	chr22:31304983-31304984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10854601	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089481	0.85[AMR][1000 genomes]
rs11089484	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11703597	0.83[EUR][1000 genomes]
rs11705565	0.86[AMR][1000 genomes]
rs12166294	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12167144	0.82[AMR][1000 genomes]
rs12168307	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1807686	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016654	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2019171	0.81[EUR][1000 genomes]
rs2072132	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2079221	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240175	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240176	0.83[EUR][1000 genomes]
rs2240177	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240179	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240180	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240183	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3747151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788426	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804084	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804085	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3827330	0.84[EUR][1000 genomes]
rs3948685	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4820916	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820921	0.84[EUR][1000 genomes]
rs4820923	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4820925	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820926	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749185	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749189	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749199	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749201	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753373	0.83[AMR][1000 genomes]
rs5753378	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753379	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753383	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753386	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753389	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753394	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753396	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753407	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753408	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753410	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997802	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5997807	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997830	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997838	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6518726	0.81[EUR][1000 genomes]
rs6518729	0.84[EUR][1000 genomes]
rs722683	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722684	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7284767	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7289831	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7290078	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7291199	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7291361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7291471	0.84[EUR][1000 genomes]
rs737924	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737926	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737927	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs739896	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8004	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8135974	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8139350	0.81[EUR][1000 genomes]
rs9609183	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9609185	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9609188	0.80[AMR][1000 genomes];0.83[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
rs5749192	MORC2-AS1	cis	Thyroid	GTEx
rs5749192	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5749192	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5749192	MORC2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
4	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
7	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
8	chr22:31290000-31305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr22:31290000-31305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:31290200-31305000	Weak transcription	Pancreas	Pancrea
11	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr22:31290600-31316200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:31291000-31316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:31291200-31316200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:31291400-31315400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:31293800-31310200	Weak transcription	Hela-S3	cervix
19	chr22:31294800-31309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:31295400-31321000	Weak transcription	HSMMtube	muscle
21	chr22:31296200-31309000	Weak transcription	Left Ventricle	heart
22	chr22:31296800-31310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:31297000-31305600	Strong transcription	Fetal Intestine Small	intestine
24	chr22:31297400-31309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:31298200-31305800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:31298400-31306600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31299200-31309800	Weak transcription	Primary B cells from cord blood	blood
28	chr22:31299600-31308800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr22:31299600-31316600	Weak transcription	NHEK	skin
30	chr22:31299800-31305000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:31299800-31307600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:31299800-31317000	Weak transcription	Brain Angular Gyrus	brain
33	chr22:31300000-31307200	Weak transcription	GM12878-XiMat	blood
34	chr22:31300200-31305200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:31300200-31305400	Weak transcription	Aorta	Aorta
36	chr22:31300200-31307800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr22:31300200-31308600	Weak transcription	Esophagus	oesophagus
38	chr22:31300200-31308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:31300200-31308800	Weak transcription	Right Ventricle	heart
40	chr22:31300200-31316200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:31300200-31320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:31300400-31305200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr22:31300400-31305200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:31300400-31307200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:31300400-31309000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:31300400-31311600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr22:31300400-31311800	Weak transcription	Adipose Nuclei	Adipose
48	chr22:31300800-31311600	Weak transcription	Liver	Liver
49	chr22:31301400-31305600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:31301400-31308200	Weak transcription	Fetal Intestine Large	intestine

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