Variant report

Variant	rs5753377
Chromosome Location	chr22:31293700-31293701
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	chr22:31292508..31294976-chr22:31363600..31365719,2	K562	blood:
2	chr22:31291971..31294342-chr22:31302855..31304396,2	K562	blood:

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11089481	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11703597	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11705565	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12166294	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12167141	0.83[ASN][1000 genomes]
rs12167144	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12168307	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240176	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240181	0.88[EUR][1000 genomes]
rs3827330	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820921	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753373	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753378	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753379	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753383	0.87[AMR][1000 genomes]
rs5997802	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997837	0.85[EUR][1000 genomes]
rs7284474	0.85[EUR][1000 genomes]
rs7291471	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8139350	0.89[EUR][1000 genomes]
rs8140448	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv2500485	chr22:31291011-31294491	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs5753377	MORC2-AS1	cis	Thyroid	GTEx
rs5753377	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs5753377	MORC2-AS1	cis	Whole Blood	GTEx
rs5753377	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs5753377	MORC2-AS1	cis	Nerve Tibial	GTEx
rs5753377	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:88 , 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	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
8	chr22:31278800-31301600	Weak transcription	A549	lung
9	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
12	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
17	chr22:31285200-31295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:31286200-31294000	Weak transcription	HepG2	liver
19	chr22:31286200-31294200	Weak transcription	Aorta	Aorta
20	chr22:31286400-31294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:31286400-31299200	Weak transcription	Liver	Liver
22	chr22:31286400-31304000	Weak transcription	Ovary	ovary
23	chr22:31287200-31294200	Strong transcription	Fetal Intestine Small	intestine
24	chr22:31287200-31299200	Weak transcription	Esophagus	oesophagus
25	chr22:31287400-31300400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:31287800-31295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
28	chr22:31288600-31293800	Strong transcription	Hela-S3	cervix
29	chr22:31289200-31294400	Weak transcription	HSMM	muscle
30	chr22:31289400-31298600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31289600-31294400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:31290000-31294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:31290000-31294600	Weak transcription	Lung	lung
34	chr22:31290000-31294800	Weak transcription	Spleen	Spleen
35	chr22:31290000-31295200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:31290000-31305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr22:31290000-31305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:31290200-31294200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:31290200-31294400	Weak transcription	Fetal Stomach	stomach
40	chr22:31290200-31294600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:31290200-31295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:31290200-31298200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:31290200-31298600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr22:31290200-31299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:31290200-31303800	Weak transcription	Gastric	stomach
46	chr22:31290200-31305000	Weak transcription	Pancreas	Pancrea
47	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:31290600-31293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:31290600-31294200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links