Variant report

Variant	rs5749201
Chromosome Location	chr22:31368096-31368097
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr22:31366051-31368128	HEK293	kidney:	n/a	n/a
2	POLR2A	chr22:31368003-31368211	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:31367281-31368260	K562	blood:	n/a	n/a
4	POLR2A	chr22:31367970-31368368	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr22:31367945-31368152	MCF10A-Er-Src	breast:	n/a	n/a
6	SETDB1	chr22:31365847-31370102	U2OS	brain:	n/a	n/a
7	POLR2A	chr22:31367632-31368203	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31365932..31368594-chr6:30687396..30689377,2	K562	blood:
2	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
3	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
4	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
5	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
6	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBP2-2	chr22:31368034-31368158	ENSG00000253352
2	lnc-OSBP2-2	chr22:31368031-31368158	XLOC_014209
3	lnc-OSBP2-2	chr22:31368034-31368158	ENSG00000253352.3
4	lnc-OSBP2-2	chr22:31368034-31368158	ENSG00000253352.3
5	lnc-OSBP2-2	chr22:31368034-31368158	NONHSAT084832
6	lnc-OSBP2-2	chr22:31367912-31368158	NONHSAT084836

No data

Variant related genes	Relation type
MORC2	TF binding region
TUG1	TF binding region
ENSG00000273387	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10854601	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11089484	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12168307	0.83[AMR][1000 genomes]
rs1807686	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016654	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2072132	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2079221	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240175	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240177	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240179	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240180	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240183	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3747151	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788426	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804084	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3804085	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3827330	0.81[EUR][1000 genomes]
rs3948685	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4820916	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820921	0.81[EUR][1000 genomes]
rs4820923	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820925	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4820926	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs5749185	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749189	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5749192	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749199	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753378	0.80[AMR][1000 genomes]
rs5753379	0.80[AMR][1000 genomes]
rs5753383	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5753386	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753389	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753394	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753396	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753407	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753408	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753410	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997807	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997830	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997838	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5997843	0.80[AFR][1000 genomes]
rs6518729	0.81[EUR][1000 genomes]
rs722683	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722684	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7284767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289831	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7290078	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7291199	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7291361	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7291471	0.81[EUR][1000 genomes]
rs737924	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737926	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737927	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs739896	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8004	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8135974	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609183	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9609185	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9609188	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs5749201	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs5749201	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs5749201	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5749201	MORC2-AS1	cis	Nerve Tibial	GTEx
rs5749201	MORC2-AS1	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31365800-31375200	ZNF genes & repeats	Fetal Brain Male	brain
2	chr22:31366000-31373000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr22:31366000-31373400	ZNF genes & repeats	Fetal Muscle Leg	muscle
4	chr22:31366200-31370200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:31366200-31372600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
6	chr22:31366200-31373400	ZNF genes & repeats	Fetal Lung	lung
7	chr22:31366200-31375800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31366400-31368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:31366400-31370000	ZNF genes & repeats	Aorta	Aorta
10	chr22:31366400-31372800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr22:31366400-31373200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr22:31366400-31374000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:31366400-31374200	ZNF genes & repeats	GM12878-XiMat	blood
14	chr22:31366400-31374600	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr22:31366400-31375000	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr22:31366400-31375200	ZNF genes & repeats	Fetal Brain Female	brain
17	chr22:31366400-31376800	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr22:31366600-31368200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:31366600-31369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:31366600-31372000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr22:31366600-31372000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:31366600-31372200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr22:31366600-31372600	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr22:31366600-31374400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:31366600-31375200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:31366600-31376400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr22:31366800-31368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:31366800-31368800	Weak transcription	Stomach Mucosa	stomach
29	chr22:31366800-31368800	Strong transcription	HSMM	muscle
30	chr22:31366800-31369000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:31366800-31371000	Strong transcription	Fetal Thymus	thymus
32	chr22:31366800-31371800	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr22:31366800-31372200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr22:31366800-31373000	ZNF genes & repeats	Fetal Kidney	kidney
35	chr22:31366800-31380800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:31367000-31368600	Weak transcription	Right Atrium	heart
37	chr22:31367000-31368800	Weak transcription	Fetal Heart	heart
38	chr22:31367000-31370200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr22:31367000-31370600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:31367000-31371800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr22:31367000-31372000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr22:31367000-31372600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr22:31367000-31373800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:31367000-31374400	ZNF genes & repeats	A549	lung
45	chr22:31367000-31374800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:31367000-31375200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr22:31367200-31368800	Weak transcription	Right Ventricle	heart
48	chr22:31367200-31369400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:31367200-31369600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr22:31367200-31369800	Strong transcription	NHDF-Ad	bronchial

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