Variant report

Variant	rs2240180
Chromosome Location	chr22:31349698-31349699
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31342101..31344498-chr22:31347434..31350344,2	MCF-7	breast:
2	chr22:31348191..31351392-chr22:31476654..31479951,4	MCF-7	breast:
3	chr22:31347305..31349753-chr22:31482112..31484040,2	K562	blood:
4	chr22:31345220..31348145-chr22:31348354..31350638,2	K562	blood:
5	chr22:31348197..31350868-chr22:31363175..31365908,3	MCF-7	breast:
6	chr22:31348730..31351092-chr22:31359078..31361290,2	MCF-7	breast:
7	chr22:31345436..31347401-chr22:31349614..31351339,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1005252	0.93[YRI][hapmap]
rs10854601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11089481	0.90[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs11089484	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11703597	0.83[EUR][1000 genomes]
rs11705565	0.80[AMR][1000 genomes]
rs12166294	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12167141	0.86[TSI][hapmap]
rs12168307	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1807686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016654	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2019171	0.81[EUR][1000 genomes]
rs2072132	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074578	0.85[YRI][hapmap]
rs2079221	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240175	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240176	0.85[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs2240177	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240182	0.93[YRI][hapmap]
rs2240183	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2285918	0.93[YRI][hapmap]
rs3747151	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788426	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]
rs3804084	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804085	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[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];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3827330	0.89[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3948685	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820916	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[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];0.96[ASN][1000 genomes]
rs4820921	0.85[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820923	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820925	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820926	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749185	0.81[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749186	0.96[YRI][hapmap]
rs5749189	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749199	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749201	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753369	1.00[YRI][hapmap]
rs5753378	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753379	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753383	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753386	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753389	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753394	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753396	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753398	0.93[YRI][hapmap]
rs5753407	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753410	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997802	0.90[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs5997807	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997830	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997838	0.94[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997846	0.89[YRI][hapmap]
rs6518726	0.81[EUR][1000 genomes]
rs6518729	0.84[EUR][1000 genomes]
rs722683	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs722684	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7284767	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7289831	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7290078	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7291199	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7291361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291471	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs737924	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[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]
rs737926	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737927	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]
rs739896	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8004	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8135974	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8139350	0.81[EUR][1000 genomes]
rs8140448	0.86[TSI][hapmap]
rs9609183	0.95[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9609185	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9609188	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2240180	MORC2-AS1	cis	Nerve Tibial	GTEx
rs2240180	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2240180	MORC2-AS1	cis	Thyroid	GTEx
rs2240180	C22orf27	cis	cerebellum	SCAN
rs2240180	MORC2	cis	multi-tissue	Pritchard
rs2240180	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs2240180	MORC2	cis	parietal	SCAN

Chromatin state (count:123 , 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	chr22:31319200-31350800	Strong transcription	Brain Germinal Matrix	brain
3	chr22:31319200-31351800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:31319800-31353200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:31320200-31353400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:31320600-31354400	Strong transcription	HepG2	liver
14	chr22:31320800-31352600	Strong transcription	Fetal Thymus	thymus
15	chr22:31321000-31352800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr22:31321000-31353400	Strong transcription	Fetal Intestine Large	intestine
17	chr22:31321200-31350000	Strong transcription	Fetal Lung	lung
18	chr22:31324800-31360400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr22:31325600-31351600	Strong transcription	Fetal Brain Female	brain
20	chr22:31326200-31351800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr22:31328200-31351000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:31337200-31352800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr22:31338400-31351600	Weak transcription	Stomach Mucosa	stomach
24	chr22:31340000-31351000	Strong transcription	Primary B cells from cord blood	blood
25	chr22:31340200-31352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:31340400-31353400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:31342400-31361000	Weak transcription	Small Intestine	intestine
28	chr22:31342600-31351600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr22:31343800-31353400	Strong transcription	Fetal Muscle Leg	muscle
30	chr22:31343800-31356400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:31344000-31352800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:31344200-31349800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr22:31344200-31352600	Strong transcription	Left Ventricle	heart
34	chr22:31344200-31352800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr22:31344600-31350800	Strong transcription	Adipose Nuclei	Adipose
36	chr22:31344600-31363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr22:31344800-31349800	Strong transcription	Right Ventricle	heart
38	chr22:31344800-31354200	Strong transcription	HSMM	muscle
39	chr22:31344800-31361600	Weak transcription	Fetal Heart	heart
40	chr22:31345000-31349800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr22:31345200-31351600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:31345200-31353400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr22:31345200-31354600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:31345400-31353400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:31345400-31364000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:31345600-31350200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:31345600-31351800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:31345600-31353400	Strong transcription	Osteobl	bone
49	chr22:31345600-31364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:31345800-31351000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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