Variant report

Variant	rs10483141
Chromosome Location	chr22:28461138-28461139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10483148	0.90[AMR][1000 genomes]
rs130411	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13057007	1.00[ASW][hapmap]
rs135637	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs135641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135642	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs135643	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135644	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs135645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs135647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs135649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135655	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs135659	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs138646	1.00[CHB][hapmap]
rs138680	1.00[CHB][hapmap]
rs1569700	1.00[CHB][hapmap]
rs16985690	1.00[AFR][1000 genomes]
rs16985862	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985870	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16985909	0.81[AMR][1000 genomes]
rs16985925	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985933	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985951	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986177	1.00[CHB][hapmap]
rs16986244	0.90[AMR][1000 genomes]
rs16986248	0.90[AMR][1000 genomes]
rs16986251	0.90[AMR][1000 genomes]
rs16986254	0.90[AMR][1000 genomes]
rs16986257	0.90[AMR][1000 genomes]
rs16986266	0.90[AMR][1000 genomes]
rs17391737	0.90[AMR][1000 genomes]
rs17480137	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs17480565	1.00[AFR][1000 genomes]
rs17481471	0.90[AMR][1000 genomes]
rs17482652	0.90[AMR][1000 genomes]
rs17483227	0.90[AMR][1000 genomes]
rs17483998	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2038286	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038287	1.00[CHB][hapmap]
rs2143420	1.00[CHB][hapmap]
rs2345011	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs2881204	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs470101	1.00[CHB][hapmap]
rs5752697	1.00[AMR][1000 genomes]
rs7285440	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7286237	0.90[AMR][1000 genomes]
rs7290640	0.90[AMR][1000 genomes]
rs731050	1.00[ASN][1000 genomes]
rs767919	1.00[ASW][hapmap]
rs8135697	1.00[CEU][hapmap];0.81[AMR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
2	chr22:28445200-28462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28445200-28470400	Weak transcription	Pancreas	Pancrea
4	chr22:28445400-28470800	Weak transcription	Lung	lung
5	chr22:28445800-28462800	Weak transcription	Left Ventricle	heart
6	chr22:28446200-28467800	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
8	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:28450000-28471400	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:28450400-28464800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:28450400-28468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:28450600-28468000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:28450600-28468200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:28450800-28462800	Weak transcription	Psoas Muscle	Psoas
15	chr22:28456800-28471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:28457000-28468000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr22:28457400-28471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:28457600-28468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr22:28458400-28471200	Weak transcription	Small Intestine	intestine
20	chr22:28459400-28461600	Strong transcription	Fetal Brain Female	brain
21	chr22:28459400-28471200	Weak transcription	Brain Anterior Caudate	brain
22	chr22:28459600-28471400	Weak transcription	HepG2	liver
23	chr22:28459800-28461400	Enhancers	HSMMtube	muscle
24	chr22:28459800-28466800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:28459800-28468200	Weak transcription	Gastric	stomach
26	chr22:28460000-28465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:28460000-28465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:28460000-28466800	Weak transcription	Fetal Stomach	stomach
29	chr22:28460000-28467800	Weak transcription	Fetal Lung	lung
30	chr22:28460000-28468000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr22:28460000-28471200	Weak transcription	Aorta	Aorta
32	chr22:28460200-28462600	Weak transcription	Adipose Nuclei	Adipose
33	chr22:28460200-28464200	Strong transcription	Dnd41	blood
34	chr22:28460200-28465200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:28460200-28465200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:28460600-28462000	Enhancers	Fetal Intestine Large	intestine
37	chr22:28460600-28464200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:28460800-28461600	Enhancers	Fetal Heart	heart
39	chr22:28460800-28463000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:28461000-28461200	Enhancers	Fetal Intestine Small	intestine
41	chr22:28461000-28461600	Enhancers	Ovary	ovary
42	chr22:28461000-28461600	Enhancers	Right Ventricle	heart
43	chr22:28461000-28461600	Enhancers	Osteobl	bone
44	chr22:28461000-28462000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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