Variant report

Variant	rs17486417
Chromosome Location	chr22:28559120-28559121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28550689..28552785-chr22:28558591..28560583,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs130413	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs16986103	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs16986290	1.00[YRI][hapmap]
rs2073028	0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs5752707	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5762448	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs5762497	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762534	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5997341	0.82[AFR][1000 genomes]
rs6005697	1.00[YRI][hapmap]
rs6005704	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6005726	0.82[AFR][1000 genomes]
rs6005733	0.82[AFR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28540200-28567800	Weak transcription	Gastric	stomach
2	chr22:28540800-28567800	Weak transcription	Small Intestine	intestine
3	chr22:28543400-28559200	Weak transcription	Fetal Kidney	kidney
4	chr22:28543400-28568800	Weak transcription	NHDF-Ad	bronchial
5	chr22:28543800-28567200	Weak transcription	Fetal Heart	heart
6	chr22:28547600-28559600	Weak transcription	HepG2	liver
7	chr22:28548400-28559200	Weak transcription	Fetal Brain Male	brain
8	chr22:28548400-28566600	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:28551200-28561000	Weak transcription	Osteobl	bone
10	chr22:28555000-28561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:28556800-28559200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:28556800-28567000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr22:28557200-28560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:28557400-28559200	Strong transcription	Dnd41	blood
15	chr22:28557400-28559800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:28557600-28559600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:28557600-28567800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr22:28558000-28559400	Strong transcription	Fetal Intestine Large	intestine
19	chr22:28558000-28559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:28558000-28560400	Weak transcription	Primary T cells from cord blood	blood
21	chr22:28558000-28560400	Weak transcription	HSMMtube	muscle
22	chr22:28558200-28559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:28558400-28559200	Strong transcription	Brain Hippocampus Middle	brain
24	chr22:28558400-28559200	Strong transcription	Fetal Brain Female	brain
25	chr22:28558400-28559400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:28558400-28559400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:28558400-28559600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:28558400-28559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:28558400-28559600	Strong transcription	Adipose Nuclei	Adipose
30	chr22:28558600-28559200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:28558600-28559200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr22:28558600-28559200	Weak transcription	Spleen	Spleen
33	chr22:28558600-28559400	Strong transcription	Liver	Liver
34	chr22:28558600-28559600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:28558600-28559600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr22:28558600-28559600	Strong transcription	Left Ventricle	heart
37	chr22:28558600-28559600	ZNF genes & repeats	Lung	lung
38	chr22:28558600-28559800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr22:28558800-28559400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr22:28558800-28559600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28558800-28559600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:28558800-28559600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:28558800-28559600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr22:28558800-28559600	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr22:28558800-28559600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr22:28558800-28559800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:28558800-28559800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr22:28558800-28559800	ZNF genes & repeats	Fetal Stomach	stomach
49	chr22:28559000-28559400	ZNF genes & repeats	Esophagus	oesophagus
50	chr22:28559000-28559400	Strong transcription	Fetal Lung	lung

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