Variant report

Variant	rs5997802
Chromosome Location	chr22:31290637-31290638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31288265..31290834-chr22:31482128..31484552,2	K562	blood:
2	chr22:31286283..31288352-chr22:31290397..31292168,2	K562	blood:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10854601	0.82[EUR][1000 genomes]
rs11089481	0.90[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11703597	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11705565	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12166294	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12167141	0.90[CEU][hapmap];0.91[CHB][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12167144	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12168307	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1807686	0.82[EUR][1000 genomes]
rs2016654	0.80[EUR][1000 genomes]
rs2072132	0.83[EUR][1000 genomes]
rs2240175	0.85[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs2240176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240177	0.90[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs2240180	0.90[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs2240181	0.91[EUR][1000 genomes]
rs2240183	0.82[EUR][1000 genomes]
rs3747151	0.89[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs3788426	0.85[MEX][hapmap];0.84[TSI][hapmap]
rs3804084	0.82[EUR][1000 genomes]
rs3804085	0.85[MEX][hapmap];0.84[TSI][hapmap]
rs3827330	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3948685	0.80[EUR][1000 genomes]
rs4820916	0.85[MEX][hapmap];0.84[TSI][hapmap]
rs4820921	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749185	0.84[MEX][hapmap];0.82[TSI][hapmap]
rs5749192	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753373	0.90[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753377	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753378	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753379	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753383	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753386	0.81[EUR][1000 genomes]
rs5753394	0.90[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs5753408	0.82[EUR][1000 genomes]
rs5997837	0.88[EUR][1000 genomes]
rs5997838	0.90[MEX][hapmap];0.84[TSI][hapmap]
rs5997842	0.82[EUR][1000 genomes]
rs7284474	0.89[EUR][1000 genomes]
rs7284767	0.90[MEX][hapmap];0.86[TSI][hapmap]
rs7291361	0.82[EUR][1000 genomes]
rs7291471	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs737924	0.84[TSI][hapmap]
rs737926	0.81[EUR][1000 genomes]
rs737927	0.89[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs739896	0.82[EUR][1000 genomes]
rs8004	0.85[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8139350	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs8140448	0.95[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.92[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
rs5997802	MORC2-AS1	cis	Whole Blood	GTEx
rs5997802	MORC2-AS1	cis	Thyroid	GTEx
rs5997802	MORC2-AS1	cis	Nerve Tibial	GTEx
rs5997802	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5997802	MORC2	cis	parietal	SCAN
rs5997802	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
5	chr22:31278400-31291800	Weak transcription	HMEC	breast
6	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
10	chr22:31278800-31301600	Weak transcription	A549	lung
11	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
14	chr22:31283400-31290800	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:31283400-31291000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:31283400-31291200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr22:31283400-31291200	Strong transcription	Brain Hippocampus Middle	brain
18	chr22:31283400-31291400	Strong transcription	Brain Germinal Matrix	brain
19	chr22:31283400-31291400	Strong transcription	Fetal Brain Female	brain
20	chr22:31283400-31291600	Strong transcription	Brain Anterior Caudate	brain
21	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr22:31283600-31291000	Weak transcription	NHLF	lung
23	chr22:31283600-31291200	Strong transcription	Brain Substantia Nigra	brain
24	chr22:31283600-31292800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr22:31284200-31291800	Strong transcription	NHEK	skin
27	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:31284600-31293000	Strong transcription	Fetal Lung	lung
29	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
31	chr22:31285200-31291200	Strong transcription	Brain Angular Gyrus	brain
32	chr22:31285200-31295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:31286200-31294000	Weak transcription	HepG2	liver
34	chr22:31286200-31294200	Weak transcription	Aorta	Aorta
35	chr22:31286400-31294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:31286400-31299200	Weak transcription	Liver	Liver
37	chr22:31286400-31304000	Weak transcription	Ovary	ovary
38	chr22:31286800-31291200	Weak transcription	Adipose Nuclei	Adipose
39	chr22:31287000-31291000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr22:31287200-31291600	Strong transcription	Fetal Intestine Large	intestine
41	chr22:31287200-31294200	Strong transcription	Fetal Intestine Small	intestine
42	chr22:31287200-31299200	Weak transcription	Esophagus	oesophagus
43	chr22:31287400-31300400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:31287800-31295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:31288200-31291200	Strong transcription	K562	blood
46	chr22:31288200-31291400	Strong transcription	Placenta	Placenta
47	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
48	chr22:31288600-31291400	Strong transcription	HSMMtube	muscle
49	chr22:31288600-31293800	Strong transcription	Hela-S3	cervix
50	chr22:31289000-31291200	Enhancers	Primary T cells fromperipheralblood	blood

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