Variant report

Variant	rs10212083
Chromosome Location	chr22:28623309-28623310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10154425	1.00[ASN][1000 genomes]
rs10212036	1.00[ASN][1000 genomes]
rs10212074	1.00[ASN][1000 genomes]
rs12166023	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12166158	1.00[ASN][1000 genomes]
rs12166253	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166719	0.91[YRI][hapmap]
rs12166740	0.81[CEU][hapmap]
rs12166912	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12167735	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	1.00[ASN][1000 genomes]
rs12168180	0.82[CEU][hapmap]
rs12168652	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12168708	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12168851	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12170022	1.00[ASN][1000 genomes]
rs12170637	0.91[CEU][hapmap]
rs1297607	0.91[CEU][hapmap]
rs134194	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134197	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134488	0.91[CEU][hapmap]
rs134506	0.91[CEU][hapmap]
rs134514	0.91[CEU][hapmap]
rs134524	0.91[CEU][hapmap]
rs134547	0.91[CEU][hapmap]
rs16985976	1.00[ASN][1000 genomes]
rs16986037	0.81[CEU][hapmap]
rs16986077	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs16986398	0.91[CEU][hapmap]
rs16987005	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs17407024	1.00[ASN][1000 genomes]
rs17487463	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2345717	0.81[AMR][1000 genomes]
rs28579300	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55846737	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55856549	1.00[ASN][1000 genomes]
rs56233401	1.00[ASN][1000 genomes]
rs56391942	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57686964	1.00[ASN][1000 genomes]
rs58823697	1.00[ASN][1000 genomes]
rs58936636	0.84[AFR][1000 genomes]
rs73437900	0.82[EUR][1000 genomes]
rs73439811	0.82[EUR][1000 genomes]
rs738200	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	1.00[ASN][1000 genomes]
rs73880395	1.00[ASN][1000 genomes]
rs73882704	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73882711	0.84[AFR][1000 genomes]
rs761322	1.00[ASN][1000 genomes]
rs761323	1.00[ASN][1000 genomes]
rs9306452	1.00[ASN][1000 genomes]
rs9620768	0.81[CEU][hapmap]
rs9620769	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs9620770	1.00[ASN][1000 genomes]
rs9620771	1.00[ASN][1000 genomes]
rs9620778	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9620779	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.82[CEU][hapmap]
rs9625405	1.00[ASN][1000 genomes]
rs9625406	1.00[ASN][1000 genomes]
rs9625407	1.00[ASN][1000 genomes]
rs9625408	1.00[ASN][1000 genomes]
rs9625409	1.00[ASN][1000 genomes]
rs9625410	1.00[ASN][1000 genomes]
rs9625413	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs9625416	0.82[CEU][hapmap]
rs9625417	0.82[CEU][hapmap]
rs9625418	1.00[ASN][1000 genomes]
rs9625421	1.00[ASN][1000 genomes]
rs9625425	0.82[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625433	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625437	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625438	0.91[CEU][hapmap]
rs9625440	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625441	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625447	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625467	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs988893	1.00[AFR][1000 genomes];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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28612200-28625600	Weak transcription	Aorta	Aorta
2	chr22:28612200-28634800	Weak transcription	Dnd41	blood
3	chr22:28615800-28626400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:28617400-28625400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:28617600-28626200	Weak transcription	Psoas Muscle	Psoas
6	chr22:28618400-28626800	Weak transcription	Fetal Kidney	kidney
7	chr22:28618400-28639600	Weak transcription	Ovary	ovary
8	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
9	chr22:28619000-28626000	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:28619200-28626400	Weak transcription	Fetal Lung	lung
11	chr22:28619400-28625600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:28619400-28631000	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:28620000-28625200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:28620200-28625000	Weak transcription	Osteobl	bone
15	chr22:28620200-28625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:28620200-28625400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:28620400-28625200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:28620400-28625200	Weak transcription	NHDF-Ad	bronchial
19	chr22:28620400-28625400	Weak transcription	NHLF	lung
20	chr22:28620400-28625600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:28620400-28625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr22:28620400-28625600	Weak transcription	Fetal Muscle Leg	muscle
23	chr22:28620400-28626000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:28620400-28639200	Weak transcription	Left Ventricle	heart

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