Variant report

Variant	rs134520
Chromosome Location	chr22:28769809-28769810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10483148	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10483150	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12166475	1.00[CHB][hapmap]
rs12170637	1.00[CHB][hapmap]
rs1297607	1.00[CHB][hapmap]
rs134488	1.00[CHB][hapmap]
rs134501	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs134503	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs134504	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs134506	1.00[CHB][hapmap]
rs134509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs134510	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs134514	1.00[CHB][hapmap]
rs134521	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]
rs134547	1.00[CHB][hapmap]
rs1569700	1.00[CHB][hapmap]
rs16986177	1.00[CHB][hapmap]
rs16986254	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16986257	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16986266	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16986398	1.00[CHB][hapmap]
rs7285440	1.00[CHB][hapmap]
rs7289625	1.00[CHB][hapmap]
rs79104	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs79107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][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:43 , 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	chr22:28766400-28770000	Weak transcription	Fetal Intestine Small	intestine
5	chr22:28766400-28771600	Weak transcription	Psoas Muscle	Psoas
6	chr22:28767000-28771600	Weak transcription	Spleen	Spleen
7	chr22:28767200-28771600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:28767400-28770000	Weak transcription	Dnd41	blood
9	chr22:28768400-28770200	Enhancers	Fetal Brain Female	brain
10	chr22:28768600-28770200	Enhancers	Colon Smooth Muscle	Colon
11	chr22:28768600-28772200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr22:28768800-28770000	Enhancers	Rectal Smooth Muscle	rectum
13	chr22:28768800-28770400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:28768800-28770600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:28769000-28770800	Weak transcription	Ovary	ovary
16	chr22:28769000-28771400	Weak transcription	Adipose Nuclei	Adipose
17	chr22:28769000-28771800	Weak transcription	Left Ventricle	heart
18	chr22:28769000-28772200	Enhancers	Fetal Heart	heart
19	chr22:28769200-28770400	Enhancers	Fetal Lung	lung
20	chr22:28769400-28770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:28769400-28770200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:28769400-28770200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr22:28769400-28770200	Enhancers	HSMMtube	muscle
24	chr22:28769400-28770400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr22:28769400-28770400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr22:28769400-28770400	Enhancers	NHLF	lung
27	chr22:28769400-28770400	Enhancers	Osteobl	bone
28	chr22:28769400-28770600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:28769400-28770600	Enhancers	Primary T cells from cord blood	blood
30	chr22:28769400-28770600	Enhancers	NHDF-Ad	bronchial
31	chr22:28769600-28770000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:28769600-28770200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:28769600-28770200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:28769600-28770400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr22:28769600-28770600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr22:28769800-28770000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr22:28769800-28770200	Enhancers	Stomach Mucosa	stomach
38	chr22:28769800-28770400	Enhancers	Brain Hippocampus Middle	brain
39	chr22:28769800-28770400	Enhancers	Fetal Kidney	kidney
40	chr22:28769800-28770400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:28769800-28770400	Enhancers	HUVEC	blood vessel
42	chr22:28769800-28770600	Enhancers	Duodenum Mucosa	Duodenum
43	chr22:28769800-28770600	Enhancers	HSMM	muscle

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