Variant report

Variant	rs2072132
Chromosome Location	chr22:31342376-31342377
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31340457..31342974-chr22:31344141..31346217,2	K562	blood:
2	chr22:31336667..31339057-chr22:31340918..31343107,2	MCF-7	breast:
3	chr22:31341681..31345619-chr22:31363146..31367064,6	MCF-7	breast:
4	chr22:31342107..31345018-chr22:31480560..31483316,2	K562	blood:
5	chr22:31340439..31342971-chr22:31364239..31366878,2	MCF-7	breast:
6	chr22:31341646..31347156-chr22:31356738..31361617,7	K562	blood:
7	chr22:31341919..31343827-chr22:31360898..31363809,2	K562	blood:
8	chr22:31340062..31346727-chr22:31479237..31484130,8	MCF-7	breast:
9	chr22:31339986..31349104-chr22:31474916..31484317,23	MCF-7	breast:
10	chr22:31342107..31344742-chr22:31481093..31483316,2	K562	blood:
11	chr22:31330005..31331646-chr22:31341515..31343222,2	K562	blood:
12	chr22:31342101..31344498-chr22:31347434..31350344,2	MCF-7	breast:
13	chr22:31327002..31329909-chr22:31342219..31343763,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000253352	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10854601	0.96[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
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]
rs12168307	0.81[EUR][1000 genomes]
rs1807686	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016654	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2019171	0.80[EUR][1000 genomes]
rs2079221	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240175	0.96[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240176	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2240177	0.96[CEU][hapmap];0.90[CHB][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[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[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788426	0.96[CEU][hapmap];0.85[CHB][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];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3827330	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3948685	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820916	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820921	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];0.89[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	0.89[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];0.82[JPT][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];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753408	0.96[CEU][hapmap];0.91[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	0.83[EUR][1000 genomes]
rs5997807	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5997830	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5997838	0.96[CEU][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];0.89[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	0.96[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];0.87[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]
rs737927	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]
rs739896	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8004	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8135974	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8139350	0.81[EUR][1000 genomes]
rs9609183	0.91[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2072132	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2072132	MORC2-AS1	cis	Nerve Tibial	GTEx
rs2072132	MORC2-AS1	cis	Thyroid	GTEx
rs2072132	TUG1	Cis_1M	lymphoblastoid	RTeQTL

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	chr22:31319000-31343600	Strong transcription	Fetal Stomach	stomach
3	chr22:31319200-31344000	Strong transcription	Fetal Intestine Small	intestine
4	chr22:31319200-31345200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:31319200-31347400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:31319200-31350800	Strong transcription	Brain Germinal Matrix	brain
7	chr22:31319200-31351800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:31319600-31343200	Strong transcription	Placenta	Placenta
9	chr22:31319600-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:31319800-31343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31319800-31343200	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr22:31319800-31353200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:31320000-31342400	Strong transcription	Brain Cingulate Gyrus	brain
15	chr22:31320000-31344000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:31320200-31343000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr22:31320200-31353400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:31320400-31342400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr22:31320400-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:31320600-31343600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr22:31320600-31347400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr22:31320600-31347800	Strong transcription	Liver	Liver
28	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:31320600-31354400	Strong transcription	HepG2	liver
30	chr22:31320800-31342600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:31320800-31342600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr22:31320800-31343400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:31320800-31343600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr22:31320800-31344400	Strong transcription	HSMM	muscle
35	chr22:31320800-31344400	Strong transcription	Osteobl	bone
36	chr22:31320800-31347000	Strong transcription	NH-A	brain
37	chr22:31320800-31352600	Strong transcription	Fetal Thymus	thymus
38	chr22:31321000-31342800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:31321000-31352800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr22:31321000-31353400	Strong transcription	Fetal Intestine Large	intestine
41	chr22:31321200-31350000	Strong transcription	Fetal Lung	lung
42	chr22:31321400-31342400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr22:31321400-31343000	Strong transcription	Rectal Smooth Muscle	rectum
44	chr22:31321400-31343800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr22:31322000-31343000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr22:31323000-31343600	Strong transcription	Colon Smooth Muscle	Colon
47	chr22:31324800-31360400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr22:31325600-31351600	Strong transcription	Fetal Brain Female	brain
49	chr22:31325800-31342800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:31326000-31342600	Strong transcription	Left Ventricle	heart

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