Variant report

Variant	rs10483148
Chromosome Location	chr22:28696368-28696369
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10483141	0.90[AMR][1000 genomes]
rs10483150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166475	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12170637	1.00[CHB][hapmap]
rs1297607	1.00[CHB][hapmap]
rs134485	0.86[EUR][1000 genomes]
rs134488	1.00[CHB][hapmap]
rs134493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	0.90[EUR][1000 genomes]
rs134503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134506	1.00[CHB][hapmap]
rs134508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134514	1.00[CHB][hapmap]
rs134515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134520	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs134521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134524	1.00[CHB][hapmap]
rs134528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs135637	1.00[AMR][1000 genomes]
rs135638	0.90[AMR][1000 genomes]
rs135641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs135642	1.00[CHB][hapmap]
rs135643	0.90[AMR][1000 genomes]
rs135644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs135645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs135647	0.90[AMR][1000 genomes]
rs135649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs135655	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs135659	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1569700	1.00[CHB][hapmap]
rs16985909	0.91[AMR][1000 genomes]
rs16985925	1.00[AMR][1000 genomes]
rs16985933	1.00[AMR][1000 genomes]
rs16985951	1.00[AMR][1000 genomes]
rs16986177	1.00[CHB][hapmap]
rs16986244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986288	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986398	1.00[CHB][hapmap]
rs16986400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	1.00[EUR][1000 genomes]
rs17483998	0.80[AMR][1000 genomes]
rs2038286	1.00[AMR][1000 genomes]
rs2038287	1.00[CHB][hapmap]
rs2881204	1.00[AMR][1000 genomes]
rs35438111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752697	0.90[AMR][1000 genomes]
rs5762573	1.00[EUR][1000 genomes]
rs5762574	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519751	1.00[ASN][1000 genomes]
rs6519752	1.00[ASN][1000 genomes]
rs7285440	1.00[CHB][hapmap]
rs7289625	1.00[ASN][1000 genomes]
rs73430118	1.00[ASN][1000 genomes]
rs79104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625498	1.00[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	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
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28680200-28702000	Weak transcription	Osteobl	bone
2	chr22:28683400-28698200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr22:28685000-28704400	Weak transcription	Fetal Intestine Small	intestine
4	chr22:28690000-28702200	Weak transcription	Fetal Intestine Large	intestine
5	chr22:28692200-28698000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:28693000-28696800	Enhancers	Brain Hippocampus Middle	brain
7	chr22:28693200-28705600	Weak transcription	HepG2	liver
8	chr22:28693800-28702200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:28693800-28704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:28693800-28709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:28693800-28710400	Weak transcription	Fetal Stomach	stomach
12	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:28694000-28705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:28694200-28697000	Enhancers	Brain Substantia Nigra	brain
15	chr22:28694400-28704200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:28694600-28711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:28694800-28699000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:28695000-28696400	Enhancers	Colon Smooth Muscle	Colon
19	chr22:28695400-28696400	Enhancers	Adipose Nuclei	Adipose
20	chr22:28695400-28696400	Enhancers	Brain Cingulate Gyrus	brain
21	chr22:28695400-28696400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:28695400-28696800	Enhancers	Fetal Heart	heart
23	chr22:28695600-28702800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr22:28695800-28696800	Enhancers	Brain Angular Gyrus	brain
25	chr22:28695800-28699200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:28695800-28700200	Weak transcription	Dnd41	blood
27	chr22:28696000-28696400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr22:28696000-28696800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr22:28696000-28696800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr22:28696000-28697000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:28696000-28704000	Weak transcription	Fetal Brain Female	brain
32	chr22:28696200-28696400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:28696200-28696600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:28696200-28698200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:28696200-28698200	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:28696200-28699600	Weak transcription	Fetal Brain Male	brain
37	chr22:28696200-28700200	Weak transcription	Brain Anterior Caudate	brain
38	chr22:28696200-28700600	Weak transcription	Right Ventricle	heart
39	chr22:28696200-28701000	Weak transcription	Ovary	ovary
40	chr22:28696200-28703400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28696200-28703400	Weak transcription	Left Ventricle	heart
42	chr22:28696200-28705600	Weak transcription	Aorta	Aorta
43	chr22:28696200-28711800	Weak transcription	Gastric	stomach
44	chr22:28696200-28716000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links