Variant report

Variant	rs5753339
Chromosome Location	chr22:31227932-31227933
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: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs136223	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs136224	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2107401	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2413001	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4820907	0.91[AMR][1000 genomes]
rs5753338	0.99[ASN][1000 genomes]
rs738372	0.99[ASN][1000 genomes]
rs8139392	0.95[CHB][hapmap];0.81[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31224800-31228200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:31225000-31228000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:31225000-31228200	Enhancers	HMEC	breast
4	chr22:31225400-31229400	Enhancers	HSMM	muscle
5	chr22:31225800-31228600	Enhancers	Esophagus	oesophagus
6	chr22:31226400-31228000	Flanking Active TSS	A549	lung
7	chr22:31226600-31228000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr22:31226800-31229600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:31226800-31233200	Weak transcription	Fetal Brain Male	brain
10	chr22:31227200-31228000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:31227200-31228000	Flanking Active TSS	Hela-S3	cervix
12	chr22:31227200-31232600	Weak transcription	Brain Angular Gyrus	brain
13	chr22:31227400-31228200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr22:31227400-31228200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31227400-31228200	Enhancers	NHDF-Ad	bronchial
16	chr22:31227400-31228200	Genic enhancers	NHEK	skin
17	chr22:31227400-31229200	Enhancers	HSMMtube	muscle
18	chr22:31227400-31232400	Weak transcription	Brain Anterior Caudate	brain
19	chr22:31227400-31233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:31227600-31228800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:31227600-31228800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:31227600-31230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:31227600-31232200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:31227600-31232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:31227600-31232400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr22:31227800-31228000	Enhancers	Lung	lung
27	chr22:31227800-31233400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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