Variant report

Variant	rs12168307
Chromosome Location	chr22:31294766-31294767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31292508..31294976-chr22:31363600..31365719,2	K562	blood:

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10854601	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11089481	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11089484	0.83[AMR][1000 genomes]
rs11703597	0.91[EUR][1000 genomes]
rs11705565	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166294	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12167144	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1807686	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2072132	0.81[EUR][1000 genomes]
rs2240175	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240176	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2240177	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240179	0.84[AMR][1000 genomes]
rs2240180	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2240181	0.91[EUR][1000 genomes]
rs2240183	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3747151	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3788426	0.84[AMR][1000 genomes]
rs3804084	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3804085	0.85[AMR][1000 genomes]
rs3827330	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4820916	0.85[AMR][1000 genomes]
rs4820921	0.95[EUR][1000 genomes]
rs4820923	0.82[AMR][1000 genomes]
rs5749185	0.82[AMR][1000 genomes]
rs5749189	0.87[AMR][1000 genomes]
rs5749192	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5749199	0.83[AMR][1000 genomes]
rs5749201	0.83[AMR][1000 genomes]
rs5753373	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753377	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753378	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753379	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753383	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753386	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5753389	0.85[AMR][1000 genomes]
rs5753394	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753396	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs5753407	0.84[AMR][1000 genomes]
rs5753408	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753410	0.82[AMR][1000 genomes]
rs5997802	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997807	0.87[AMR][1000 genomes]
rs5997830	0.84[AMR][1000 genomes]
rs5997837	0.86[EUR][1000 genomes]
rs5997838	0.80[AMR][1000 genomes]
rs5997842	0.81[EUR][1000 genomes]
rs722683	0.81[AMR][1000 genomes]
rs7284474	0.87[EUR][1000 genomes]
rs7284767	0.83[AMR][1000 genomes]
rs7290078	0.90[AMR][1000 genomes]
rs7291199	0.84[AMR][1000 genomes]
rs7291361	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7291471	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs737924	0.84[AMR][1000 genomes]
rs737926	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs737927	0.81[EUR][1000 genomes]
rs739896	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8004	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8135974	0.81[AMR][1000 genomes]
rs8139350	0.92[EUR][1000 genomes]
rs8140448	0.88[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12168307	MORC2-AS1	cis	Nerve Tibial	GTEx
rs12168307	MORC2-AS1	cis	Artery Tibial	GTEx
rs12168307	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs12168307	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs12168307	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs12168307	MORC2-AS1	cis	Whole Blood	GTEx
rs12168307	MORC2-AS1	cis	Thyroid	GTEx

Chromatin state (count:83 , 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	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
5	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
8	chr22:31278800-31301600	Weak transcription	A549	lung
9	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
10	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
15	chr22:31285200-31295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:31286400-31299200	Weak transcription	Liver	Liver
17	chr22:31286400-31304000	Weak transcription	Ovary	ovary
18	chr22:31287200-31299200	Weak transcription	Esophagus	oesophagus
19	chr22:31287400-31300400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:31287800-31295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
22	chr22:31289400-31298600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31290000-31294800	Weak transcription	Spleen	Spleen
24	chr22:31290000-31295200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:31290000-31305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:31290000-31305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:31290200-31295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:31290200-31298200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:31290200-31298600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr22:31290200-31299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:31290200-31303800	Weak transcription	Gastric	stomach
32	chr22:31290200-31305000	Weak transcription	Pancreas	Pancrea
33	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:31290600-31295200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr22:31290600-31298400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr22:31290600-31299400	Weak transcription	Right Ventricle	heart
38	chr22:31290600-31316200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:31291000-31295000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:31291000-31295200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr22:31291000-31316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr22:31291200-31295200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:31291200-31295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr22:31291200-31297800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:31291200-31298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:31291200-31298200	Weak transcription	Brain Hippocampus Middle	brain
48	chr22:31291200-31298400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:31291200-31298400	Weak transcription	Brain Angular Gyrus	brain
50	chr22:31291200-31298600	Weak transcription	Brain Cingulate Gyrus	brain

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