Variant report

Variant	rs134501
Chromosome Location	chr22:28742346-28742347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10483148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];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]
rs130411	1.00[AMR][1000 genomes]
rs134485	0.86[EUR][1000 genomes]
rs134488	1.00[CHB][hapmap]
rs134493	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134502	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs134503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134506	1.00[CHB][hapmap]
rs134508	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134512	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134514	1.00[CHB][hapmap]
rs134515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134516	1.00[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];1.00[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];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134547	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs135649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs135655	0.84[EUR][1000 genomes]
rs135659	0.84[EUR][1000 genomes]
rs1569700	1.00[CHB][hapmap]
rs16986177	1.00[CHB][hapmap]
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[YRI][hapmap];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986288	0.85[AMR][1000 genomes];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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986433	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986451	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986469	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986502	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35438111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762574	1.00[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]
rs7285440	1.00[CHB][hapmap]
rs7289625	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73430118	1.00[ASN][1000 genomes]
rs79104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28736000-28744200	Weak transcription	Lung	lung
2	chr22:28736400-28746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28737200-28742600	Weak transcription	Dnd41	blood
4	chr22:28737200-28747200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:28737400-28744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:28737800-28744800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:28738000-28751600	Weak transcription	Left Ventricle	heart
8	chr22:28738800-28744200	Weak transcription	Fetal Brain Male	brain
9	chr22:28740200-28742400	Enhancers	Colon Smooth Muscle	Colon
10	chr22:28740200-28743000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:28740800-28742800	Enhancers	HSMMtube	muscle
12	chr22:28741200-28742800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:28741400-28742800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr22:28741400-28744000	Weak transcription	Brain Hippocampus Middle	brain
15	chr22:28741600-28742400	Weak transcription	Fetal Muscle Leg	muscle
16	chr22:28741600-28742400	Weak transcription	Psoas Muscle	Psoas
17	chr22:28741600-28743200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:28741600-28743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:28741600-28744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:28741600-28744800	Weak transcription	Ovary	ovary
21	chr22:28741600-28747600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr22:28741600-28752000	Weak transcription	HSMM	muscle
23	chr22:28741600-28753200	Weak transcription	Brain Germinal Matrix	brain
24	chr22:28741600-28759000	Weak transcription	Fetal Stomach	stomach
25	chr22:28742000-28745000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:28742200-28742400	Enhancers	Fetal Lung	lung
27	chr22:28742200-28742600	Enhancers	Fetal Brain Female	brain
28	chr22:28742200-28742800	Enhancers	Fetal Heart	heart
29	chr22:28742200-28742800	Enhancers	Right Ventricle	heart

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