Variant report

Variant	rs5749185
Chromosome Location	chr22:31282893-31282894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31282874-31283014	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MORC2-4	chr22:31282046-31283901	NONHSAT084812

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10854601	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11089481	0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs11089484	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11705565	0.84[AMR][1000 genomes]
rs12168307	0.82[AMR][1000 genomes]
rs1807686	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2016654	0.87[EUR][1000 genomes]
rs2072132	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2079221	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240175	0.82[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240176	0.82[TSI][hapmap]
rs2240177	0.88[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240179	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240180	0.81[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240183	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3747151	0.88[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3788426	0.88[ASW][hapmap];0.96[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3804084	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804085	0.88[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3827330	0.83[MEX][hapmap];0.82[TSI][hapmap]
rs3948685	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs4820916	0.88[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4820921	0.82[TSI][hapmap]
rs4820923	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5749186	0.80[YRI][hapmap]
rs5749189	0.84[AMR][1000 genomes]
rs5749192	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749199	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749201	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753373	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs5753383	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753386	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753389	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753394	0.82[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753396	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753407	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753408	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753410	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5997802	0.84[MEX][hapmap];0.82[TSI][hapmap]
rs5997807	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997830	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997838	0.88[ASW][hapmap];0.96[CEU][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs722683	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs722684	0.83[EUR][1000 genomes]
rs7284767	0.88[ASW][hapmap];0.96[CEU][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7290078	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7291199	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7291361	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737924	0.88[ASW][hapmap];0.95[CEU][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs737926	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs737927	0.91[CEU][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs739896	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8004	0.94[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8135974	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8140448	0.88[TSI][hapmap]
rs9609183	0.90[CEU][hapmap]
rs9609185	0.80[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs5749185	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5749185	MORC2	cis	multi-tissue	Pritchard
rs5749185	C22orf27	cis	cerebellum	SCAN
rs5749185	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5749185	MORC2-AS1	cis	Whole Blood	GTEx
rs5749185	MORC2-AS1	cis	Nerve Tibial	GTEx
rs5749185	MORC2	cis	parietal	SCAN
rs5749185	MORC2-AS1	cis	Thyroid	GTEx

Chromatin state (count:73 , 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	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31269400-31284200	Weak transcription	NHEK	skin
4	chr22:31269800-31283400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr22:31275200-31284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:31275600-31283400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:31275800-31283600	Weak transcription	HSMM	muscle
9	chr22:31275800-31284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:31275800-31285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
12	chr22:31276400-31283400	Weak transcription	Fetal Brain Female	brain
13	chr22:31276400-31283600	Weak transcription	Brain Substantia Nigra	brain
14	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
15	chr22:31278000-31283400	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:31278200-31283200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:31278200-31283400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:31278200-31284400	Weak transcription	Gastric	stomach
20	chr22:31278200-31285200	Weak transcription	Esophagus	oesophagus
21	chr22:31278200-31286600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:31278400-31283400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:31278400-31283400	Weak transcription	Fetal Stomach	stomach
25	chr22:31278400-31283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:31278400-31283600	Weak transcription	Pancreas	Pancrea
27	chr22:31278400-31286200	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:31278400-31288600	Weak transcription	HSMMtube	muscle
29	chr22:31278400-31291800	Weak transcription	HMEC	breast
30	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:31278600-31285600	Weak transcription	Liver	Liver
33	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
35	chr22:31278800-31301600	Weak transcription	A549	lung
36	chr22:31279400-31283600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:31279400-31288600	Weak transcription	Hela-S3	cervix
38	chr22:31279600-31283600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr22:31279600-31285600	Weak transcription	HepG2	liver
40	chr22:31280000-31283400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:31280000-31285000	Weak transcription	Right Ventricle	heart
42	chr22:31280000-31285200	Weak transcription	Left Ventricle	heart
43	chr22:31280200-31287200	Genic enhancers	Fetal Intestine Small	intestine
44	chr22:31280200-31288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:31280600-31284600	Weak transcription	Fetal Lung	lung
46	chr22:31281000-31283400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:31281200-31283200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:31281200-31283400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:31281400-31288800	Weak transcription	Lung	lung
50	chr22:31281600-31283000	Weak transcription	Fetal Intestine Large	intestine

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