Variant report

Variant	rs12169782
Chromosome Location	chr22:28355872-28355873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1000112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12167128	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12170161	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130411	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs130414	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13058351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138630	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17389267	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17480369	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2038287	0.82[CEU][hapmap]
rs34734418	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292859	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8135697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs926467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9620755	0.95[ASN][1000 genomes]
rs9620758	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625355	0.84[ASN][1000 genomes]
rs9625368	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625378	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9985181	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
2	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
5	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:28319600-28358000	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:28321200-28358400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
10	chr22:28322000-28365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:28322000-28366200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr22:28326800-28368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
14	chr22:28339400-28367800	Weak transcription	Fetal Intestine Small	intestine
15	chr22:28346000-28356600	Weak transcription	HepG2	liver
16	chr22:28348400-28357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:28348800-28358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:28348800-28358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:28349200-28358400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:28349400-28358000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:28351000-28362200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:28352000-28357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:28353400-28369200	Weak transcription	Fetal Stomach	stomach
24	chr22:28354600-28357800	Weak transcription	Fetal Kidney	kidney
25	chr22:28354800-28356000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr22:28354800-28358400	Weak transcription	Brain Substantia Nigra	brain
27	chr22:28354800-28360600	Enhancers	Liver	Liver
28	chr22:28355000-28356000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:28355000-28356000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr22:28355200-28356000	Enhancers	Psoas Muscle	Psoas
31	chr22:28355200-28356600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr22:28355200-28356600	Enhancers	HUVEC	blood vessel
33	chr22:28355200-28357000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr22:28355200-28357000	Enhancers	Fetal Muscle Leg	muscle
35	chr22:28355400-28356600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr22:28355400-28356600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:28355400-28357000	Enhancers	Ovary	ovary
38	chr22:28355400-28358400	Weak transcription	Small Intestine	intestine
39	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
40	chr22:28355600-28356000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr22:28355600-28356000	Flanking Active TSS	Fetal Heart	heart
42	chr22:28355600-28356400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr22:28355600-28356600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr22:28355600-28356800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr22:28355600-28357000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr22:28355600-28366800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:28355600-28378000	Weak transcription	Gastric	stomach
48	chr22:28355800-28356000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr22:28355800-28356800	Weak transcription	Fetal Lung	lung
50	chr22:28355800-28358200	Weak transcription	Brain Anterior Caudate	brain

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