Variant report

Variant	rs7289883
Chromosome Location	chr22:31598896-31598897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31598041..31601034-chr22:31604196..31606916,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58921166	0.87[AMR][1000 genomes]
rs59592122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61098917	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61506183	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73390400	0.82[AFR][1000 genomes]
rs73392205	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8138024	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:31572200-31600000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
5	chr22:31575800-31602600	Weak transcription	Stomach Mucosa	stomach
6	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
7	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:31576000-31607800	Weak transcription	A549	lung
9	chr22:31579200-31607400	Weak transcription	K562	blood
10	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:31581000-31599200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:31582400-31602400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:31582800-31603600	Strong transcription	Liver	Liver
15	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31585600-31599200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr22:31585600-31599800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr22:31585600-31601200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:31586000-31603800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:31587000-31599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr22:31587000-31602200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:31588200-31606600	Strong transcription	Fetal Stomach	stomach
23	chr22:31588400-31603400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:31588600-31599800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:31588600-31606400	Strong transcription	Fetal Intestine Small	intestine
26	chr22:31589000-31607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr22:31589200-31602200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:31589400-31603600	Strong transcription	Adipose Nuclei	Adipose
29	chr22:31589400-31605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:31590600-31601800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:31590600-31602000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr22:31590600-31603200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:31591200-31599400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr22:31591400-31599400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr22:31591600-31599600	Strong transcription	Placenta	Placenta
36	chr22:31592000-31601200	Weak transcription	Small Intestine	intestine
37	chr22:31592000-31607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:31592800-31606000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:31593000-31607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:31593200-31607600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:31594800-31602400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:31595000-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:31595000-31599600	Strong transcription	Primary T cells from cord blood	blood
44	chr22:31595000-31599800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:31595000-31600800	Strong transcription	Osteobl	bone
46	chr22:31595000-31602200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr22:31595000-31602400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:31595000-31605200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:31595000-31605800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr22:31595200-31599400	Strong transcription	Lung	lung

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