Variant report

Variant	rs58519712
Chromosome Location	chr22:28275515-28275516
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	chr22:28272869..28275526-chr22:28276490..28279131,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55802118	0.83[AFR][1000 genomes]
rs56051821	0.83[AFR][1000 genomes]
rs60418495	0.83[AFR][1000 genomes]
rs73880343	1.00[AFR][1000 genomes]
rs73880346	1.00[AFR][1000 genomes]
rs73880351	0.89[AFR][1000 genomes]
rs73880366	0.83[AFR][1000 genomes]
rs73880368	0.83[AFR][1000 genomes]
rs73880369	0.83[AFR][1000 genomes]
rs73880373	0.83[AFR][1000 genomes]
rs73880378	0.83[AFR][1000 genomes]
rs73880379	0.83[AFR][1000 genomes]
rs73880380	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
4	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
5	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
6	chr22:28259600-28279600	Weak transcription	Gastric	stomach
7	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:28264400-28276200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:28266800-28275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr22:28267200-28276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:28267600-28277200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:28268000-28276200	Weak transcription	HepG2	liver
15	chr22:28268000-28279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:28268200-28279800	Weak transcription	Pancreas	Pancrea
17	chr22:28268600-28275600	Enhancers	Brain Substantia Nigra	brain
18	chr22:28268600-28279800	Enhancers	Rectal Smooth Muscle	rectum
19	chr22:28269800-28279800	Weak transcription	Hela-S3	cervix
20	chr22:28270000-28275600	Enhancers	Colon Smooth Muscle	Colon
21	chr22:28270000-28279600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:28270000-28279800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr22:28270400-28276800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:28270400-28277200	Weak transcription	Right Atrium	heart
26	chr22:28270400-28277400	Weak transcription	Psoas Muscle	Psoas
27	chr22:28270400-28278600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:28270400-28279000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:28270400-28279000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr22:28270400-28279200	Weak transcription	Placenta	Placenta
31	chr22:28270400-28279600	Weak transcription	Lung	lung
32	chr22:28270400-28281200	Weak transcription	K562	blood
33	chr22:28271000-28279000	Weak transcription	Fetal Thymus	thymus
34	chr22:28271400-28276600	Weak transcription	Left Ventricle	heart
35	chr22:28271400-28277000	Enhancers	Fetal Brain Male	brain
36	chr22:28271400-28278400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr22:28271600-28278400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:28271800-28278400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr22:28272200-28277200	Weak transcription	Aorta	Aorta
40	chr22:28272200-28279600	Weak transcription	Primary B cells from cord blood	blood
41	chr22:28273000-28276000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:28273000-28276800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:28273000-28277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:28273000-28277000	Weak transcription	NH-A	brain
45	chr22:28273000-28277200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:28273000-28277400	Weak transcription	Ovary	ovary
47	chr22:28273000-28277600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr22:28273000-28279000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:28273000-28279400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:28273000-28279400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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