Variant report

Variant	rs134522
Chromosome Location	chr22:28770582-28770583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs134196	0.82[CEU][hapmap]
rs134527	0.86[CEU][hapmap]
rs134544	0.86[CEU][hapmap]
rs134551	0.82[CEU][hapmap]
rs2346397	0.84[CEU][hapmap]
rs5752746	0.83[CEU][hapmap]
rs5762520	0.92[CEU][hapmap]
rs5762670	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6005790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs695267	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs695318	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs695388	0.85[CEU][hapmap]
rs695459	0.88[ASN][1000 genomes]
rs695567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs695700	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737622	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs738199	0.95[JPT][hapmap]

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:35 , 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	chr22:28768600-28772200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr22:28768800-28770600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:28769000-28770800	Weak transcription	Ovary	ovary
10	chr22:28769000-28771400	Weak transcription	Adipose Nuclei	Adipose
11	chr22:28769000-28771800	Weak transcription	Left Ventricle	heart
12	chr22:28769000-28772200	Enhancers	Fetal Heart	heart
13	chr22:28769400-28770600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:28769400-28770600	Enhancers	Primary T cells from cord blood	blood
15	chr22:28769400-28770600	Enhancers	NHDF-Ad	bronchial
16	chr22:28769600-28770600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:28769800-28770600	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:28769800-28770600	Enhancers	HSMM	muscle
19	chr22:28770000-28770600	Enhancers	Dnd41	blood
20	chr22:28770000-28770800	Enhancers	Fetal Intestine Small	intestine
21	chr22:28770000-28777400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:28770200-28772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:28770200-28772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:28770200-28774800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:28770200-28775000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:28770200-28775800	Weak transcription	Fetal Brain Female	brain
27	chr22:28770200-28777200	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:28770400-28770600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr22:28770400-28771400	Weak transcription	Fetal Lung	lung
30	chr22:28770400-28771600	Weak transcription	HUVEC	blood vessel
31	chr22:28770400-28771800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:28770400-28771800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:28770400-28771800	Weak transcription	Osteobl	bone
34	chr22:28770400-28775800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:28770400-28777000	Weak transcription	NHLF	lung

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