Variant report

Variant	rs11089481
Chromosome Location	chr22:31288769-31288770
allele	A/G
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	chr22:31285974-31289035	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31288582-31288769	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:
2	chr22:31288265..31290834-chr22:31482128..31484552,2	K562	blood:

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10854601	0.81[AMR][1000 genomes]
rs11703597	0.89[EUR][1000 genomes]
rs11705565	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12166294	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12167141	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[TSI][hapmap]
rs12167144	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12168307	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1807686	0.81[AMR][1000 genomes]
rs2240175	0.85[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes]
rs2240176	0.90[CEU][hapmap];0.91[CHB][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2240177	0.90[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs2240180	0.90[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs2240181	0.87[EUR][1000 genomes]
rs2240183	0.81[AMR][1000 genomes]
rs3747151	0.89[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs3788426	0.85[MEX][hapmap]
rs3804084	0.84[AMR][1000 genomes]
rs3804085	0.85[MEX][hapmap]
rs3827330	0.90[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4820916	0.85[MEX][hapmap]
rs4820921	0.90[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs5749185	0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs5749192	0.85[AMR][1000 genomes]
rs5753373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753377	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753378	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753379	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753386	0.83[AMR][1000 genomes]
rs5753394	0.90[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes]
rs5753396	0.84[AMR][1000 genomes]
rs5753408	0.81[AMR][1000 genomes]
rs5997802	0.90[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997830	0.82[JPT][hapmap]
rs5997837	0.85[EUR][1000 genomes]
rs5997838	0.90[MEX][hapmap]
rs7284474	0.86[EUR][1000 genomes]
rs7284767	0.90[MEX][hapmap];0.80[TSI][hapmap]
rs7290078	0.84[AMR][1000 genomes]
rs7291361	0.81[AMR][1000 genomes]
rs7291471	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs737926	0.83[AMR][1000 genomes]
rs737927	0.89[MEX][hapmap];0.86[TSI][hapmap]
rs739896	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8004	0.85[MEX][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8139350	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs8140448	0.95[CEU][hapmap];1.00[TSI][hapmap];0.95[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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11089481	MORC2	cis	multi-tissue	Pritchard
rs11089481	MORC2-AS1	cis	Whole Blood	GTEx
rs11089481	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs11089481	MORC2-AS1	cis	Nerve Tibial	GTEx
rs11089481	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs11089481	MORC2	cis	Liver	GTEx
rs11089481	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs11089481	C22orf27	cis	Liver	GTEx
rs11089481	MORC2-AS1	cis	Thyroid	GTEx
rs11089481	MORC2	cis	parietal	SCAN
rs11089481	C22orf27	cis	multi-tissue	Pritchard

Chromatin state (count:90 , 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	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
5	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
6	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:31278400-31291800	Weak transcription	HMEC	breast
8	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
12	chr22:31278800-31301600	Weak transcription	A549	lung
13	chr22:31281400-31288800	Weak transcription	Lung	lung
14	chr22:31282200-31289000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr22:31282200-31289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:31283000-31290600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
20	chr22:31283200-31289800	Strong transcription	Spleen	Spleen
21	chr22:31283200-31290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:31283400-31290200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:31283400-31290200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:31283400-31290200	Strong transcription	Fetal Stomach	stomach
25	chr22:31283400-31290600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31283400-31290800	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:31283400-31291000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:31283400-31291200	Strong transcription	Brain Cingulate Gyrus	brain
29	chr22:31283400-31291200	Strong transcription	Brain Hippocampus Middle	brain
30	chr22:31283400-31291400	Strong transcription	Brain Germinal Matrix	brain
31	chr22:31283400-31291400	Strong transcription	Fetal Brain Female	brain
32	chr22:31283400-31291600	Strong transcription	Brain Anterior Caudate	brain
33	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr22:31283600-31289600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:31283600-31290200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr22:31283600-31290200	Strong transcription	Pancreas	Pancrea
37	chr22:31283600-31291000	Weak transcription	NHLF	lung
38	chr22:31283600-31291200	Strong transcription	Brain Substantia Nigra	brain
39	chr22:31283600-31292800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr22:31284200-31290600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:31284200-31291800	Strong transcription	NHEK	skin
43	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:31284600-31293000	Strong transcription	Fetal Lung	lung
45	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
47	chr22:31285000-31290600	Strong transcription	Right Ventricle	heart
48	chr22:31285200-31289400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:31285200-31291200	Strong transcription	Brain Angular Gyrus	brain
50	chr22:31285200-31295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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