Variant report

Variant	rs134521
Chromosome Location	chr22:28770055-28770056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10483148	1.00[CEU][hapmap];1.00[CHB][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]
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]
rs134501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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	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[YRI][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	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];1.00[YRI][hapmap]
rs134524	1.00[CHB][hapmap]
rs134528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][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	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[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	0.85[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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs79107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][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	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28759800-28777200	Weak transcription	Fetal Stomach	stomach
2	chr22:28760000-28771800	Weak transcription	Right Ventricle	heart
3	chr22:28766200-28772000	Weak transcription	Lung	lung
4	chr22:28766400-28771600	Weak transcription	Psoas Muscle	Psoas
5	chr22:28767000-28771600	Weak transcription	Spleen	Spleen
6	chr22:28767200-28771600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr22:28768400-28770200	Enhancers	Fetal Brain Female	brain
8	chr22:28768600-28770200	Enhancers	Colon Smooth Muscle	Colon
9	chr22:28768600-28772200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr22:28768800-28770400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:28768800-28770600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:28769000-28770800	Weak transcription	Ovary	ovary
13	chr22:28769000-28771400	Weak transcription	Adipose Nuclei	Adipose
14	chr22:28769000-28771800	Weak transcription	Left Ventricle	heart
15	chr22:28769000-28772200	Enhancers	Fetal Heart	heart
16	chr22:28769200-28770400	Enhancers	Fetal Lung	lung
17	chr22:28769400-28770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:28769400-28770200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:28769400-28770200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:28769400-28770200	Enhancers	HSMMtube	muscle
21	chr22:28769400-28770400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:28769400-28770400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr22:28769400-28770400	Enhancers	NHLF	lung
24	chr22:28769400-28770400	Enhancers	Osteobl	bone
25	chr22:28769400-28770600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:28769400-28770600	Enhancers	Primary T cells from cord blood	blood
27	chr22:28769400-28770600	Enhancers	NHDF-Ad	bronchial
28	chr22:28769600-28770200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:28769600-28770200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:28769600-28770400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr22:28769600-28770600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr22:28769800-28770200	Enhancers	Stomach Mucosa	stomach
33	chr22:28769800-28770400	Enhancers	Brain Hippocampus Middle	brain
34	chr22:28769800-28770400	Enhancers	Fetal Kidney	kidney
35	chr22:28769800-28770400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:28769800-28770400	Enhancers	HUVEC	blood vessel
37	chr22:28769800-28770600	Enhancers	Duodenum Mucosa	Duodenum
38	chr22:28769800-28770600	Enhancers	HSMM	muscle
39	chr22:28770000-28770400	Enhancers	NH-A	brain
40	chr22:28770000-28770600	Enhancers	Dnd41	blood
41	chr22:28770000-28770800	Enhancers	Fetal Intestine Small	intestine
42	chr22:28770000-28777400	Weak transcription	Rectal Smooth Muscle	rectum

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