Variant report

Variant	rs5754253
Chromosome Location	chr22:33153347-33153348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1018792	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11089594	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs130525	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs130530	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs130532	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs130533	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs135149	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2413148	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4322932	0.85[ASN][1000 genomes]
rs4635627	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4821094	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4821095	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4821096	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5754251	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5994619	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5998616	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5998622	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72487604	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs762887	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs929013	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs929014	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9606991	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9606992	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9606993	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9609622	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9609623	0.88[ASN][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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33149200-33153400	Weak transcription	Fetal Thymus	thymus
2	chr22:33149200-33157200	Weak transcription	NHLF	lung
3	chr22:33149400-33156600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:33149400-33157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:33149600-33156400	Weak transcription	Placenta	Placenta
6	chr22:33149600-33157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:33150800-33155000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:33151000-33156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:33151000-33156600	Weak transcription	Fetal Stomach	stomach
10	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
11	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:33151200-33154600	Weak transcription	HSMM	muscle
13	chr22:33151200-33154800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:33151200-33154800	Weak transcription	HSMMtube	muscle
15	chr22:33151200-33155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:33151200-33156200	Weak transcription	Lung	lung
17	chr22:33151200-33156400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:33151200-33156400	Weak transcription	Osteobl	bone
19	chr22:33151200-33156600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:33151200-33157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:33151200-33157000	Weak transcription	NH-A	brain
22	chr22:33151400-33154800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:33151400-33155000	Weak transcription	NHDF-Ad	bronchial
24	chr22:33151400-33156400	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:33151400-33156400	Weak transcription	Spleen	Spleen
26	chr22:33151600-33154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:33151600-33154800	Weak transcription	Adipose Nuclei	Adipose
28	chr22:33151600-33156200	Weak transcription	Hela-S3	cervix
29	chr22:33151600-33156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:33151600-33156400	Weak transcription	Psoas Muscle	Psoas
31	chr22:33151800-33155000	Weak transcription	Right Atrium	heart
32	chr22:33151800-33156200	Weak transcription	Left Ventricle	heart
33	chr22:33152600-33153800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr22:33152600-33154000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:33152800-33153600	Enhancers	HepG2	liver
36	chr22:33152800-33158000	Weak transcription	Pancreas	Pancrea

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