Variant report

Variant	rs7290078
Chromosome Location	chr22:31318744-31318745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31158219..31160716-chr22:31317751..31319382,2	K562	blood:
2	chr22:31158390..31161654-chr22:31315788..31318935,3	MCF-7	breast:
3	chr22:31218130..31220095-chr22:31317473..31320044,2	MCF-7	breast:
4	chr22:31318522..31320087-chr22:31320410..31322859,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10854601	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11089481	0.84[AMR][1000 genomes]
rs11089484	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11705565	0.83[AMR][1000 genomes]
rs12166294	0.85[AMR][1000 genomes]
rs12167144	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12168307	0.90[AMR][1000 genomes]
rs1807686	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016654	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2072132	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2079221	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240176	0.80[AMR][1000 genomes]
rs2240177	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240179	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240180	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240183	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747151	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788426	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3804084	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804085	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3948685	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820916	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820923	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820925	0.84[AMR][1000 genomes]
rs4820926	0.84[AMR][1000 genomes]
rs5749185	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749189	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749192	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749199	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749201	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753373	0.82[AMR][1000 genomes]
rs5753378	0.86[AMR][1000 genomes]
rs5753379	0.86[AMR][1000 genomes]
rs5753383	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753386	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753389	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753407	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753408	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753410	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997807	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997830	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997838	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs722683	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs722684	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7284767	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7289831	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7291199	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7291361	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737924	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737926	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737927	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs739896	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8004	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8135974	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9609183	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9609185	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9609188	0.83[AMR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7290078	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs7290078	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs7290078	MORC2-AS1	cis	Thyroid	GTEx
rs7290078	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs7290078	MORC2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:31295400-31321000	Weak transcription	HSMMtube	muscle
4	chr22:31300200-31320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31304200-31320800	Weak transcription	Gastric	stomach
6	chr22:31304600-31320400	Weak transcription	Lung	lung
7	chr22:31305600-31319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:31305600-31320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:31306000-31319600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:31306800-31320200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:31306800-31320200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:31311400-31319800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:31312000-31320000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:31312200-31320000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:31313000-31319800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:31316200-31320600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:31316600-31318800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr22:31316800-31323000	Weak transcription	Hela-S3	cervix
19	chr22:31317000-31319800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31317400-31318800	Active TSS	Primary T cells from cord blood	blood
21	chr22:31317400-31318800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:31317400-31318800	Active TSS	Thymus	Thymus
23	chr22:31317600-31320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31317600-31323000	Weak transcription	A549	lung
25	chr22:31317600-31324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr22:31317800-31318800	Active TSS	Duodenum Mucosa	Duodenum
28	chr22:31317800-31319800	Weak transcription	HepG2	liver
29	chr22:31317800-31323200	Weak transcription	HMEC	breast
30	chr22:31318000-31318800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr22:31318000-31318800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:31318000-31319800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:31318200-31318800	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr22:31318200-31318800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:31318200-31318800	Flanking Active TSS	GM12878-XiMat	blood
36	chr22:31318200-31320800	Weak transcription	NH-A	brain
37	chr22:31318200-31320800	Weak transcription	NHEK	skin
38	chr22:31318200-31321600	Weak transcription	Esophagus	oesophagus
39	chr22:31318400-31318800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:31318400-31318800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr22:31318400-31318800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr22:31318400-31318800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr22:31318400-31318800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr22:31318400-31319200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:31318400-31319200	Weak transcription	Brain Germinal Matrix	brain
46	chr22:31318400-31319200	Weak transcription	Fetal Brain Female	brain
47	chr22:31318400-31320000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr22:31318400-31320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:31318400-31320400	Weak transcription	Aorta	Aorta
50	chr22:31318400-31320800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links