Variant report

Variant	rs2240181
Chromosome Location	chr22:31359571-31359572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31359528-31360047	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr22:31359426-31359717	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31358926..31361303-chr22:31361613..31363630,2	K562	blood:
2	chr22:31341646..31347156-chr22:31356738..31361617,7	K562	blood:
3	chr22:31348730..31351092-chr22:31359078..31361290,2	MCF-7	breast:
4	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
5	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
6	chr22:31358200..31360560-chr22:31363652..31365441,2	K562	blood:
7	chr22:31357396..31359694-chr22:31367585..31370526,2	K562	blood:
8	chr22:31355920..31358724-chr22:31359423..31361158,2	MCF-7	breast:
9	chr22:31357301..31361303-chr22:31361613..31367076,8	K562	blood:
10	chr22:31357752..31360312-chr22:31458264..31460162,2	K562	blood:
11	chr22:31357365..31359982-chr22:31491835..31493430,2	MCF-7	breast:
12	chr22:31344983..31347156-chr22:31357746..31359920,2	K562	blood:

No data

Variant related genes	Relation type
MORC2	TF binding region
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000253352	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11089481	0.87[EUR][1000 genomes]
rs11703597	0.90[EUR][1000 genomes]
rs11705565	0.86[EUR][1000 genomes]
rs12166294	0.91[EUR][1000 genomes]
rs12167144	0.86[EUR][1000 genomes]
rs12168307	0.91[EUR][1000 genomes]
rs2240176	0.93[EUR][1000 genomes]
rs3827330	0.94[EUR][1000 genomes]
rs4820921	0.94[EUR][1000 genomes]
rs5753373	0.87[EUR][1000 genomes]
rs5753377	0.88[EUR][1000 genomes]
rs5753378	0.92[EUR][1000 genomes]
rs5753379	0.92[EUR][1000 genomes]
rs5997802	0.91[EUR][1000 genomes]
rs5997837	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7284474	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7291471	0.94[EUR][1000 genomes]
rs8004	0.80[EUR][1000 genomes]
rs8139350	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8139971	0.84[AMR][1000 genomes]
rs8140448	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9621153	0.81[AMR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2240181	MORC2-AS1	cis	Nerve Tibial	GTEx
rs2240181	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs2240181	MORC2-AS1	cis	Whole Blood	GTEx
rs2240181	MORC2-AS1	cis	Thyroid	GTEx
rs2240181	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs2240181	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2240181	MORC2-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31324800-31360400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:31342400-31361000	Weak transcription	Small Intestine	intestine
4	chr22:31344600-31363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:31344800-31361600	Weak transcription	Fetal Heart	heart
6	chr22:31345400-31364000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:31345600-31364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31346000-31364400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:31346200-31364200	Weak transcription	Brain Substantia Nigra	brain
10	chr22:31347200-31363000	Weak transcription	Colon Smooth Muscle	Colon
11	chr22:31347200-31364400	Weak transcription	Esophagus	oesophagus
12	chr22:31347400-31362400	Weak transcription	Gastric	stomach
13	chr22:31347400-31362400	Weak transcription	Lung	lung
14	chr22:31347400-31363000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:31347400-31363800	Weak transcription	NHLF	lung
16	chr22:31347600-31363000	Weak transcription	Spleen	Spleen
17	chr22:31347600-31363400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:31347600-31363400	Weak transcription	HMEC	breast
19	chr22:31347600-31364000	Weak transcription	Fetal Kidney	kidney
20	chr22:31348600-31362800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:31348800-31363000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:31348800-31363800	Weak transcription	Brain Angular Gyrus	brain
23	chr22:31348800-31364000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr22:31349000-31363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:31349000-31364400	Weak transcription	Aorta	Aorta
26	chr22:31349200-31359600	Weak transcription	K562	blood
27	chr22:31349200-31360400	Weak transcription	Hela-S3	cervix
28	chr22:31349200-31363600	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:31349200-31364200	Weak transcription	Thymus	Thymus
30	chr22:31349400-31359800	Weak transcription	Dnd41	blood
31	chr22:31349400-31364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:31349600-31359800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:31349800-31360000	Weak transcription	Right Ventricle	heart
34	chr22:31349800-31363800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:31349800-31363800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:31349800-31363800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr22:31349800-31363800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr22:31349800-31364200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:31350400-31364200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:31350600-31363000	Weak transcription	Psoas Muscle	Psoas
41	chr22:31350800-31363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:31350800-31363800	Weak transcription	Brain Anterior Caudate	brain
43	chr22:31351000-31360400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:31351000-31363600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:31351000-31364400	Weak transcription	Ovary	ovary
46	chr22:31351400-31362200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:31351800-31363800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:31351800-31364000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr22:31352400-31362200	Weak transcription	Liver	Liver
50	chr22:31352400-31363600	Weak transcription	Muscle Satellite Cultured Cells	--

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