Variant report

Variant	rs10483150
Chromosome Location	chr22:28831814-28831815
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10483148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165715	1.00[CHB][hapmap]
rs12166245	1.00[CHB][hapmap]
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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134506	1.00[CHB][hapmap]
rs134508	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134514	1.00[CHB][hapmap]
rs134515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	0.85[AMR][1000 genomes];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];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134524	1.00[CHB][hapmap]
rs134528	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs135649	0.84[EUR][1000 genomes]
rs135655	0.84[EUR][1000 genomes]
rs135659	0.84[EUR][1000 genomes]
rs16986244	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986248	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	1.00[CEU][hapmap];1.00[CHB][hapmap];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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883639	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17883954	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17886970	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35438111	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6519751	1.00[ASN][1000 genomes]
rs6519752	1.00[ASN][1000 genomes]
rs7289534	1.00[CHB][hapmap]
rs7289625	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7293232	1.00[CHB][hapmap]
rs73430118	1.00[ASN][1000 genomes]
rs79104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9613617	1.00[YRI][hapmap]
rs9620808	1.00[CHB][hapmap]
rs9625498	1.00[ASN][1000 genomes]
rs9625512	1.00[CHB][hapmap]
rs9625513	1.00[CHB][hapmap]
rs9625514	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28820800-28837400	Weak transcription	HSMMtube	muscle
2	chr22:28821400-28836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:28822200-28837800	Weak transcription	Left Ventricle	heart
4	chr22:28823000-28837000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:28827000-28837000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:28827200-28832000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:28827200-28833600	Weak transcription	Psoas Muscle	Psoas
8	chr22:28827200-28836200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:28827200-28836200	Weak transcription	Brain Germinal Matrix	brain
10	chr22:28827200-28836400	Weak transcription	Brain Anterior Caudate	brain
11	chr22:28827200-28836400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:28827200-28837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:28827400-28834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:28829400-28834800	Weak transcription	Osteobl	bone
15	chr22:28829400-28837600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:28830400-28832800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr22:28830600-28832600	Enhancers	Fetal Brain Male	brain
18	chr22:28830800-28832400	Enhancers	Small Intestine	intestine
19	chr22:28830800-28832600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:28831000-28836400	Weak transcription	Aorta	Aorta
21	chr22:28831200-28832000	Enhancers	Liver	Liver
22	chr22:28831200-28832000	Enhancers	Fetal Lung	lung
23	chr22:28831200-28832400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:28831200-28832600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:28831200-28832600	Enhancers	Ovary	ovary
26	chr22:28831200-28832800	Enhancers	NHEK	skin
27	chr22:28831200-28833600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:28831400-28832200	Enhancers	Adipose Nuclei	Adipose
29	chr22:28831400-28832600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:28831400-28832800	Enhancers	HMEC	breast
31	chr22:28831400-28834000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:28831600-28832000	Active TSS	Fetal Brain Female	brain
33	chr22:28831600-28832400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:28831600-28832400	Enhancers	Colon Smooth Muscle	Colon
35	chr22:28831600-28832400	Enhancers	Fetal Heart	heart
36	chr22:28831600-28833000	Flanking Active TSS	Dnd41	blood
37	chr22:28831800-28832400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr22:28831800-28832600	Enhancers	NHDF-Ad	bronchial
39	chr22:28831800-28834000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:28831800-28836400	Weak transcription	Brain Substantia Nigra	brain

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