Variant report

Variant	rs5753124
Chromosome Location	chr22:30795484-30795485
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30791787-30796585	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:30793918-30795516	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:

Variant related genes	Relation type
SEC14L2	TF binding region
ENSG00000273350	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000242114	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2299830	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4820844	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4820846	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820847	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997642	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7284527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737723	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9608904	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9620979	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30792800-30795600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30794000-30816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30794000-30818000	Weak transcription	Right Atrium	heart
4	chr22:30794200-30795800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:30794200-30796200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:30794200-30797800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:30794200-30797800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:30794400-30802200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30794400-30811800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:30794600-30796200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:30794600-30796400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:30794600-30798000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:30794600-30798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:30794600-30802200	Weak transcription	Aorta	Aorta
15	chr22:30794600-30803200	Weak transcription	Fetal Brain Male	brain
16	chr22:30794600-30803200	Weak transcription	Lung	lung
17	chr22:30794600-30811400	Weak transcription	Right Ventricle	heart
18	chr22:30794800-30795800	Enhancers	Brain Germinal Matrix	brain
19	chr22:30794800-30796200	Enhancers	HepG2	liver
20	chr22:30794800-30796400	Enhancers	Stomach Smooth Muscle	stomach
21	chr22:30794800-30796600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:30794800-30796600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:30794800-30796600	Enhancers	Fetal Thymus	thymus
24	chr22:30794800-30797800	Weak transcription	A549	lung
25	chr22:30794800-30798000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr22:30794800-30802800	Weak transcription	Hela-S3	cervix
27	chr22:30794800-30811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:30794800-30811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
30	chr22:30795000-30795800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:30795000-30796000	Active TSS	Brain Substantia Nigra	brain
32	chr22:30795000-30796400	Enhancers	Brain Hippocampus Middle	brain
33	chr22:30795000-30802600	Weak transcription	Fetal Lung	lung
34	chr22:30795000-30809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr22:30795000-30814600	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:30795200-30795600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:30795200-30795600	Active TSS	HMEC	breast
38	chr22:30795200-30795600	Active TSS	HSMM	muscle
39	chr22:30795200-30795600	Enhancers	NHEK	skin
40	chr22:30795200-30795800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:30795200-30795800	Enhancers	HSMMtube	muscle
42	chr22:30795200-30796000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:30795200-30796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:30795200-30796200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:30795200-30796200	Enhancers	Brain Cingulate Gyrus	brain
46	chr22:30795200-30796400	Enhancers	Esophagus	oesophagus
47	chr22:30795200-30796600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:30795200-30797800	Weak transcription	Brain Angular Gyrus	brain
49	chr22:30795200-30797800	Weak transcription	Fetal Intestine Large	intestine
50	chr22:30795200-30797800	Weak transcription	Ovary	ovary

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