Variant report

Variant	rs5753340
Chromosome Location	chr22:31228362-31228363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31227706..31229647-chr22:31232434..31234862,2	K562	blood:
2	chr22:31220489..31223329-chr22:31226581..31228922,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MORC2-5	chr22:31226532-31228414	ucscGeneNc_uc003amw_1

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13055067	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs136232	0.84[ASN][1000 genomes]
rs57084031	0.91[ASN][1000 genomes]
rs5749166	0.81[EUR][1000 genomes]
rs5749169	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749171	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749173	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753334	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753335	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753336	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753337	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753341	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753348	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57707485	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61049226	0.93[ASN][1000 genomes]
rs62235916	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62235942	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs742205	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][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	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31225400-31229400	Enhancers	HSMM	muscle
2	chr22:31225800-31228600	Enhancers	Esophagus	oesophagus
3	chr22:31226800-31229600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:31226800-31233200	Weak transcription	Fetal Brain Male	brain
5	chr22:31227200-31232600	Weak transcription	Brain Angular Gyrus	brain
6	chr22:31227400-31229200	Enhancers	HSMMtube	muscle
7	chr22:31227400-31232400	Weak transcription	Brain Anterior Caudate	brain
8	chr22:31227400-31233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:31227600-31228800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:31227600-31228800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31227600-31230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:31227600-31232200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:31227600-31232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:31227600-31232400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:31227800-31233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:31228000-31228600	Genic enhancers	Hela-S3	cervix
17	chr22:31228000-31229600	Enhancers	A549	lung
18	chr22:31228000-31233600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:31228200-31228800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:31228200-31229400	Strong transcription	NHEK	skin
21	chr22:31228200-31232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:31228200-31233600	Weak transcription	HMEC	breast
23	chr22:31228200-31233600	Weak transcription	NHDF-Ad	bronchial

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