Variant report

Variant	rs5753336
Chromosome Location	chr22:31227373-31227374
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	chr22:31220489..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: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13055067	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs136232	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs136233	0.93[CHB][hapmap]
rs136241	0.93[CHB][hapmap]
rs136252	0.86[CHB][hapmap]
rs136257	0.86[CHB][hapmap]
rs57084031	0.91[ASN][1000 genomes]
rs5749166	0.81[EUR][1000 genomes]
rs5749169	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749171	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5749173	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753334	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753335	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753337	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753341	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753348	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57707485	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997743	0.82[CEU][hapmap]
rs61049226	0.93[ASN][1000 genomes]
rs62235916	0.94[EUR][1000 genomes]
rs62235942	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs742205	0.81[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs5753336	NF2	cis	cerebellum	SCAN
rs5753336	PITPNB	cis	cerebellum	SCAN
rs5753336	MTMR3	cis	parietal	SCAN
rs5753336	CRYBB2	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31223200-31227600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr22:31224400-31227600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:31224800-31228200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:31225000-31228000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:31225000-31228200	Enhancers	HMEC	breast
6	chr22:31225400-31227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:31225400-31229400	Enhancers	HSMM	muscle
8	chr22:31225600-31227600	Enhancers	HUVEC	blood vessel
9	chr22:31225800-31227600	Enhancers	NHLF	lung
10	chr22:31225800-31227800	Enhancers	Fetal Lung	lung
11	chr22:31225800-31227800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr22:31225800-31228600	Enhancers	Esophagus	oesophagus
13	chr22:31226000-31227400	Enhancers	Brain Anterior Caudate	brain
14	chr22:31226000-31227400	Enhancers	Brain Substantia Nigra	brain
15	chr22:31226000-31227600	Enhancers	Brain Cingulate Gyrus	brain
16	chr22:31226200-31227600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31226200-31227600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr22:31226200-31227600	Enhancers	Brain Hippocampus Middle	brain
19	chr22:31226400-31227400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr22:31226400-31227400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr22:31226400-31227400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr22:31226400-31227400	Enhancers	Adipose Nuclei	Adipose
23	chr22:31226400-31227600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr22:31226400-31227600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:31226400-31227600	Enhancers	Stomach Mucosa	stomach
26	chr22:31226400-31227800	Enhancers	Psoas Muscle	Psoas
27	chr22:31226400-31228000	Flanking Active TSS	A549	lung
28	chr22:31226600-31227400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr22:31226600-31227400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:31226600-31227600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr22:31226600-31227600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr22:31226600-31227800	Weak transcription	Lung	lung
33	chr22:31226600-31228000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr22:31226800-31227400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:31226800-31227600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:31226800-31227600	Enhancers	NH-A	brain
37	chr22:31226800-31227600	Enhancers	Osteobl	bone
38	chr22:31226800-31229600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:31226800-31233200	Weak transcription	Fetal Brain Male	brain
40	chr22:31227000-31227400	Enhancers	Right Atrium	heart
41	chr22:31227000-31227400	Enhancers	Right Ventricle	heart
42	chr22:31227000-31227600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr22:31227000-31227600	Enhancers	Left Ventricle	heart
44	chr22:31227200-31227400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:31227200-31227400	Flanking Active TSS	HSMMtube	muscle
46	chr22:31227200-31227400	Flanking Active TSS	NHDF-Ad	bronchial
47	chr22:31227200-31227400	Transcr. at gene 5' and 3'	NHEK	skin
48	chr22:31227200-31227800	Weak transcription	Aorta	Aorta
49	chr22:31227200-31228000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:31227200-31228000	Flanking Active TSS	Hela-S3	cervix

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