Variant report

Variant	rs132565
Chromosome Location	chr22:29401498-29401499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17440734	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1883197	0.81[AMR][1000 genomes]
rs1983553	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2064084	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2072774	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2347789	0.82[EUR][1000 genomes]
rs28541979	0.88[ASN][1000 genomes]
rs4140643	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4333023	0.82[EUR][1000 genomes]
rs4404379	0.81[EUR][1000 genomes]
rs4580479	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs469994	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820794	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4823002	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4823003	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4823005	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997430	0.81[EUR][1000 genomes]
rs5997432	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997433	0.83[EUR][1000 genomes]
rs5997435	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6005954	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005955	0.80[EUR][1000 genomes]
rs6005958	0.87[EUR][1000 genomes]
rs6005964	0.88[EUR][1000 genomes]
rs6005965	0.83[EUR][1000 genomes]
rs713834	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7290304	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8137254	0.82[AMR][1000 genomes]
rs8137499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874916	0.80[EUR][1000 genomes]
rs874917	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9608719	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9608721	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9613771	0.81[EUR][1000 genomes]
rs9613784	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29397800-29402200	Enhancers	Fetal Heart	heart
2	chr22:29398000-29402000	Enhancers	Fetal Muscle Leg	muscle
3	chr22:29398600-29402600	Enhancers	Pancreas	Pancrea
4	chr22:29398800-29405000	Weak transcription	HSMMtube	muscle
5	chr22:29399400-29402000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:29399400-29403200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:29399600-29401800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:29399600-29401800	Enhancers	Brain Cingulate Gyrus	brain
9	chr22:29399600-29403400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr22:29400000-29401600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29400000-29401600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr22:29400000-29401600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:29400000-29401600	Enhancers	Brain Hippocampus Middle	brain
14	chr22:29400000-29401600	Enhancers	Fetal Kidney	kidney
15	chr22:29400000-29401800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:29400000-29401800	Enhancers	Liver	Liver
17	chr22:29400000-29401800	Enhancers	Brain Anterior Caudate	brain
18	chr22:29400000-29401800	Bivalent Enhancer	Fetal Thymus	thymus
19	chr22:29400000-29401800	Enhancers	Left Ventricle	heart
20	chr22:29400000-29401800	Enhancers	Right Ventricle	heart
21	chr22:29400000-29401800	Flanking Active TSS	HepG2	liver
22	chr22:29400000-29402000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:29400200-29401600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:29400200-29401600	Enhancers	Brain Germinal Matrix	brain
25	chr22:29400200-29401800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:29400200-29401800	Enhancers	Fetal Lung	lung
27	chr22:29400400-29401600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr22:29400400-29401600	Enhancers	Psoas Muscle	Psoas
29	chr22:29400400-29401800	Enhancers	Lung	lung
30	chr22:29400400-29402200	Enhancers	Placenta	Placenta
31	chr22:29400600-29412000	Weak transcription	A549	lung
32	chr22:29400600-29425400	Weak transcription	NHEK	skin
33	chr22:29400800-29401600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr22:29400800-29401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:29400800-29401600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:29400800-29401600	Enhancers	Fetal Brain Female	brain
37	chr22:29400800-29401800	Enhancers	Adipose Nuclei	Adipose
38	chr22:29400800-29401800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr22:29400800-29402000	Enhancers	Colonic Mucosa	Colon
40	chr22:29400800-29402000	Enhancers	Gastric	stomach
41	chr22:29400800-29405000	Weak transcription	Aorta	Aorta
42	chr22:29401000-29401600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:29401000-29401600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr22:29401000-29401600	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr22:29401000-29403600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:29401200-29401600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:29401200-29401600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr22:29401200-29401600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr22:29401200-29401600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr22:29401200-29401600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links