Variant report

Variant	rs5749189
Chromosome Location	chr22:31291905-31291906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31286283..31288352-chr22:31290397..31292168,2	K562	blood:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10854601	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11089484	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11705565	0.80[AMR][1000 genomes]
rs12166294	0.82[AMR][1000 genomes]
rs12168307	0.87[AMR][1000 genomes]
rs1807686	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2016654	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2072132	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2079221	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240175	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240177	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240179	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2240180	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2240183	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3747151	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3788426	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3804084	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3804085	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3948685	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820916	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820923	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5749185	0.84[AMR][1000 genomes]
rs5749192	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749199	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5749201	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753378	0.83[AMR][1000 genomes]
rs5753379	0.83[AMR][1000 genomes]
rs5753383	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753386	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753389	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753394	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753396	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753407	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753408	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753410	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5997807	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997830	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5997838	0.84[AMR][1000 genomes]
rs722683	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs722684	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7284767	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7290078	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7291199	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7291361	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs737924	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs737926	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs737927	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs739896	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8004	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8135974	0.85[AMR][1000 genomes]
rs9609185	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv2500485	chr22:31291011-31294491	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs5749189	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5749189	MORC2-AS1	cis	Thyroid	GTEx
rs5749189	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5749189	MORC2-AS1	cis	Nerve Tibial	GTEx
rs5749189	MORC2-AS1	cis	Esophagus Muscularis	GTEx

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	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
5	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
9	chr22:31278800-31301600	Weak transcription	A549	lung
10	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
13	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:31283600-31292800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:31284600-31293000	Strong transcription	Fetal Lung	lung
18	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
20	chr22:31285200-31295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:31286200-31294000	Weak transcription	HepG2	liver
22	chr22:31286200-31294200	Weak transcription	Aorta	Aorta
23	chr22:31286400-31294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:31286400-31299200	Weak transcription	Liver	Liver
25	chr22:31286400-31304000	Weak transcription	Ovary	ovary
26	chr22:31287200-31294200	Strong transcription	Fetal Intestine Small	intestine
27	chr22:31287200-31299200	Weak transcription	Esophagus	oesophagus
28	chr22:31287400-31300400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:31287800-31295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
31	chr22:31288600-31293800	Strong transcription	Hela-S3	cervix
32	chr22:31289200-31294400	Weak transcription	HSMM	muscle
33	chr22:31289400-31298600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:31289600-31294400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:31290000-31294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:31290000-31294600	Weak transcription	Lung	lung
37	chr22:31290000-31294800	Weak transcription	Spleen	Spleen
38	chr22:31290000-31295200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:31290000-31305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:31290000-31305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:31290200-31294200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:31290200-31294400	Weak transcription	Fetal Stomach	stomach
43	chr22:31290200-31294600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:31290200-31295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr22:31290200-31298200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:31290200-31298600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr22:31290200-31299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:31290200-31303800	Weak transcription	Gastric	stomach
49	chr22:31290200-31305000	Weak transcription	Pancreas	Pancrea
50	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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