Variant report

Variant	rs35269245
Chromosome Location	chr22:29632596-29632597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1003703	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2281157	0.82[ASN][1000 genomes]
rs2744464	0.81[ASN][1000 genomes]
rs3765294	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3765296	0.90[ASN][1000 genomes]
rs3817839	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4369970	0.81[ASN][1000 genomes]
rs4823024	0.81[ASN][1000 genomes]
rs5752890	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763082	0.83[EUR][1000 genomes]
rs5763096	0.82[ASN][1000 genomes]
rs5763099	0.81[ASN][1000 genomes]
rs5763100	0.81[ASN][1000 genomes]
rs5763101	0.81[ASN][1000 genomes]
rs5763103	0.81[ASN][1000 genomes]
rs6006082	0.81[ASN][1000 genomes]
rs713992	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs738436	0.82[ASN][1000 genomes]
rs909795	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3501314	chr22:29631852-29636550	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3501315	chr22:29632402-29636400	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3501316	chr22:29632402-29636400	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3375987	chr22:29632531-29635637	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35269245	AP1B1	cis	Muscle Skeletal	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
4	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29628400-29641200	Weak transcription	Fetal Brain Male	brain
6	chr22:29629000-29635000	Weak transcription	Fetal Kidney	kidney
7	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
8	chr22:29629600-29655400	Weak transcription	Liver	Liver
9	chr22:29629600-29655400	Weak transcription	Gastric	stomach
10	chr22:29630200-29639400	Weak transcription	Ovary	ovary
11	chr22:29630200-29641400	Weak transcription	Pancreas	Pancrea
12	chr22:29630400-29635800	Weak transcription	Fetal Stomach	stomach
13	chr22:29630400-29636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:29630600-29633800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:29630600-29634800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:29630600-29634800	Weak transcription	Dnd41	blood
17	chr22:29630600-29635400	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29630600-29635400	Weak transcription	Fetal Brain Female	brain
19	chr22:29630600-29639400	Weak transcription	Spleen	Spleen
20	chr22:29630800-29635000	Weak transcription	Fetal Lung	lung
21	chr22:29631000-29635200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:29631400-29636800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:29632000-29632600	Strong transcription	Fetal Intestine Large	intestine
24	chr22:29632000-29635400	Strong transcription	Fetal Intestine Small	intestine

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