Variant report

Variant	rs3788426
Chromosome Location	chr22:31353670-31353671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31352151..31354535-chr22:31364761..31366317,2	K562	blood:
2	chr22:31352727..31355658-chr22:31478045..31481685,3	MCF-7	breast:
3	chr22:31352100..31354247-chr22:31356334..31359258,2	K562	blood:
4	chr22:31343491..31346033-chr22:31351979..31353784,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1003480	0.86[YRI][hapmap]
rs1005252	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10854601	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089481	0.85[MEX][hapmap]
rs11089484	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167144	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12168307	0.84[AMR][1000 genomes]
rs1807686	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016654	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2019171	0.82[AFR][1000 genomes]
rs2019182	0.83[EUR][1000 genomes]
rs2072132	0.96[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074578	0.83[ASW][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs2079221	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240175	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240176	0.80[MEX][hapmap];0.84[TSI][hapmap]
rs2240177	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240179	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]
rs2240180	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240182	0.83[ASW][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2240183	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285918	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3747151	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804084	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804085	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3827330	0.84[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs3948685	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820916	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820921	0.80[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs4820923	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820925	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820926	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749185	0.88[ASW][hapmap];0.96[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749186	0.96[YRI][hapmap]
rs5749189	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749192	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749199	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749201	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753369	0.93[YRI][hapmap]
rs5753378	0.81[AMR][1000 genomes]
rs5753379	0.81[AMR][1000 genomes]
rs5753383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753386	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753388	0.83[AFR][1000 genomes]
rs5753389	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753394	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753396	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753398	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs5753407	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];0.99[ASN][1000 genomes]
rs5753408	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753410	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997802	0.85[MEX][hapmap];0.84[TSI][hapmap]
rs5997807	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997830	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997838	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997843	0.80[AFR][1000 genomes]
rs5997846	0.96[YRI][hapmap]
rs6518726	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6518729	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs722683	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs722684	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7284767	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7289831	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7290078	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7291077	0.84[AFR][1000 genomes]
rs7291199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7291361	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7291471	0.81[EUR][1000 genomes]
rs737924	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737926	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737927	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]
rs739896	1.00[CEU][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8004	0.83[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8135974	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9609183	0.95[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9609185	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9609188	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9609193	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3788426	MORC2	cis	multi-tissue	Pritchard
rs3788426	MORC2	cis	parietal	SCAN
rs3788426	C22orf27	cis	cerebellum	SCAN
rs3788426	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs3788426	MORC2-AS1	cis	Thyroid	GTEx
rs3788426	MORC2-AS1	cis	Nerve Tibial	GTEx
rs3788426	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:121 , 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	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:31320600-31354400	Strong transcription	HepG2	liver
10	chr22:31324800-31360400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:31342400-31361000	Weak transcription	Small Intestine	intestine
12	chr22:31343800-31356400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31344600-31363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:31344800-31354200	Strong transcription	HSMM	muscle
15	chr22:31344800-31361600	Weak transcription	Fetal Heart	heart
16	chr22:31345200-31354600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:31345400-31364000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:31345600-31364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:31345800-31354600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:31345800-31354800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:31346000-31364400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:31346200-31354600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:31346200-31364200	Weak transcription	Brain Substantia Nigra	brain
24	chr22:31346600-31356600	Weak transcription	Colonic Mucosa	Colon
25	chr22:31346800-31355400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr22:31347200-31354600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:31347200-31355200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr22:31347200-31363000	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:31347200-31364400	Weak transcription	Esophagus	oesophagus
30	chr22:31347400-31359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:31347400-31362400	Weak transcription	Gastric	stomach
32	chr22:31347400-31362400	Weak transcription	Lung	lung
33	chr22:31347400-31363000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:31347400-31363800	Weak transcription	NHLF	lung
35	chr22:31347600-31359400	Weak transcription	Pancreas	Pancrea
36	chr22:31347600-31363000	Weak transcription	Spleen	Spleen
37	chr22:31347600-31363400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:31347600-31363400	Weak transcription	HMEC	breast
39	chr22:31347600-31364000	Weak transcription	Fetal Kidney	kidney
40	chr22:31347800-31355800	Weak transcription	GM12878-XiMat	blood
41	chr22:31348000-31358200	Weak transcription	Fetal Intestine Small	intestine
42	chr22:31348600-31362800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:31348800-31363000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:31348800-31363800	Weak transcription	Brain Angular Gyrus	brain
45	chr22:31348800-31364000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr22:31349000-31363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:31349000-31364400	Weak transcription	Aorta	Aorta
48	chr22:31349200-31355400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr22:31349200-31359600	Weak transcription	K562	blood
50	chr22:31349200-31360400	Weak transcription	Hela-S3	cervix

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