Variant report

Variant	rs5997457
Chromosome Location	chr22:29636141-29636142
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12161095	0.84[ASN][1000 genomes]
rs12171266	0.84[ASN][1000 genomes]
rs12373988	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3765296	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763079	0.84[ASN][1000 genomes]
rs5763082	0.87[ASN][1000 genomes]
rs5763083	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006071	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs909795	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	esv3501314	chr22:29631852-29636550	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3501315	chr22:29632402-29636400	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3501316	chr22:29632402-29636400	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv436349	chr22:29632636-29638282	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 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	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
7	chr22:29629600-29655400	Weak transcription	Liver	Liver
8	chr22:29629600-29655400	Weak transcription	Gastric	stomach
9	chr22:29630200-29639400	Weak transcription	Ovary	ovary
10	chr22:29630200-29641400	Weak transcription	Pancreas	Pancrea
11	chr22:29630600-29639400	Weak transcription	Spleen	Spleen
12	chr22:29631400-29636800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:29633400-29636600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:29633600-29654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr22:29634600-29655200	Weak transcription	Brain Angular Gyrus	brain
16	chr22:29634800-29639800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr22:29634800-29640400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29634800-29641200	Strong transcription	Fetal Intestine Large	intestine
19	chr22:29635400-29638200	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr22:29635600-29638600	Weak transcription	Fetal Kidney	kidney
21	chr22:29635800-29636600	Weak transcription	Fetal Brain Female	brain
22	chr22:29635800-29637800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:29635800-29637800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:29635800-29637800	Enhancers	Fetal Thymus	thymus
25	chr22:29635800-29638400	Strong transcription	Fetal Lung	lung
26	chr22:29635800-29639400	Weak transcription	Brain Germinal Matrix	brain
27	chr22:29636000-29636400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:29636000-29636600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr22:29636000-29637800	Genic enhancers	Dnd41	blood
30	chr22:29636000-29638200	ZNF genes & repeats	Fetal Stomach	stomach

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