Variant report

Variant	rs737927
Chromosome Location	chr22:31338470-31338471
allele	C/T
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	CTCF	chr22:31338380-31338530	GM12871	blood:	n/a	n/a
2	POLR2A	chr22:31338249-31338524	K562	blood:	n/a	n/a

Variant related genes	Relation type
MORC2	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10854601	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11089481	0.89[MEX][hapmap];0.86[TSI][hapmap]
rs11089484	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11703597	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12166294	0.81[EUR][1000 genomes]
rs12167141	0.85[TSI][hapmap]
rs12168307	0.81[EUR][1000 genomes]
rs1807686	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016654	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2019171	0.80[EUR][1000 genomes]
rs2072132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079221	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240175	0.96[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240176	0.84[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2240177	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240179	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240180	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240183	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3747151	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788426	0.96[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3804084	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3804085	0.96[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3827330	0.89[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3948685	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820916	0.96[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820921	0.84[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4820923	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4820925	0.83[EUR][1000 genomes]
rs4820926	0.82[EUR][1000 genomes]
rs5749185	0.91[CEU][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs5749189	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749192	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749199	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749201	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753378	0.82[EUR][1000 genomes]
rs5753379	0.82[EUR][1000 genomes]
rs5753383	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753386	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753389	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753394	0.96[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753396	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753407	0.96[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753408	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753410	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997802	0.89[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs5997807	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5997830	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5997838	0.96[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6518729	0.84[EUR][1000 genomes]
rs722683	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs722684	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7284767	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7289831	0.86[EUR][1000 genomes]
rs7290078	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7291199	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7291361	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7291471	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs737924	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737926	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs739896	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8004	0.96[CEU][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8135974	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8139350	0.81[EUR][1000 genomes]
rs8140448	0.86[TSI][hapmap]
rs9609183	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9609185	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9609188	0.83[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs737927	C22orf27	cis	cerebellum	SCAN
rs737927	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs737927	MORC2-AS1	cis	Thyroid	GTEx
rs737927	MORC2	cis	multi-tissue	Pritchard
rs737927	MORC2-AS1	cis	Nerve Tibial	GTEx
rs737927	MORC2	cis	parietal	SCAN

Chromatin state (count:127 , 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	chr22:31318400-31342200	Weak transcription	Right Atrium	heart
3	chr22:31319000-31343600	Strong transcription	Fetal Stomach	stomach
4	chr22:31319200-31338600	Strong transcription	Thymus	Thymus
5	chr22:31319200-31344000	Strong transcription	Fetal Intestine Small	intestine
6	chr22:31319200-31345200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:31319200-31347400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:31319200-31350800	Strong transcription	Brain Germinal Matrix	brain
9	chr22:31319200-31351800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:31319400-31342200	Strong transcription	Fetal Muscle Leg	muscle
11	chr22:31319600-31342000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:31319600-31342200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:31319600-31343200	Strong transcription	Placenta	Placenta
14	chr22:31319600-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31319800-31342200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:31319800-31343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31319800-31343200	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr22:31319800-31353200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:31320000-31342000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:31320000-31342200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr22:31320000-31342400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr22:31320000-31344000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:31320200-31340200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:31320200-31342200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:31320200-31343000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr22:31320200-31353400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:31320400-31340600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:31320400-31342400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr22:31320400-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:31320600-31343600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr22:31320600-31347400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr22:31320600-31347800	Strong transcription	Liver	Liver
39	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:31320600-31354400	Strong transcription	HepG2	liver
41	chr22:31320800-31341000	Strong transcription	NHEK	skin
42	chr22:31320800-31342600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr22:31320800-31342600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr22:31320800-31343400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:31320800-31343600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr22:31320800-31344400	Strong transcription	HSMM	muscle
47	chr22:31320800-31344400	Strong transcription	Osteobl	bone
48	chr22:31320800-31347000	Strong transcription	NH-A	brain
49	chr22:31320800-31352600	Strong transcription	Fetal Thymus	thymus
50	chr22:31321000-31342800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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