Variant report

Variant	rs17480516
Chromosome Location	chr22:28288532-28288533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28279056..28281403-chr22:28286781..28288906,2	K562	blood:
2	chr22:28288104..28290281-chr22:28296485..28298916,2	K562	blood:
3	chr22:28287028..28289358-chr22:28314998..28317421,2	K562	blood:
4	chr22:28288104..28290281-chr22:28295657..28298916,3	K562	blood:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction
ENSG00000235954	Chromatin interaction
ENSG00000264073	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11090520	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17483415	0.82[EUR][1000 genomes]
rs738455	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs738474	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9608663	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9608666	1.00[AFR][1000 genomes]
rs9613549	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9613552	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9613558	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9613560	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9613569	1.00[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	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
3	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:28277800-28308400	Strong transcription	Dnd41	blood
6	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
11	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
12	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:28279600-28298400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr22:28279600-28298600	Strong transcription	Primary B cells from cord blood	blood
17	chr22:28279600-28299000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr22:28279800-28292200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:28279800-28295400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:28280600-28292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:28280600-28308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:28281200-28289200	Strong transcription	K562	blood
23	chr22:28281600-28298600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr22:28281600-28308000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr22:28281800-28295800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:28282800-28289800	Strong transcription	Thymus	Thymus
27	chr22:28282800-28290200	Strong transcription	Fetal Intestine Small	intestine
28	chr22:28282800-28290600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:28283000-28307000	Strong transcription	Fetal Intestine Large	intestine
30	chr22:28283200-28288600	Strong transcription	Gastric	stomach
31	chr22:28283200-28289400	Strong transcription	NHEK	skin
32	chr22:28283200-28290600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr22:28283200-28295400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:28283200-28298800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:28283200-28300000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:28283200-28307600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:28283400-28290000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr22:28283400-28290200	Strong transcription	Fetal Stomach	stomach
39	chr22:28283400-28292200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:28283400-28294000	Strong transcription	Fetal Lung	lung
41	chr22:28283400-28298400	Strong transcription	HMEC	breast
42	chr22:28283600-28289000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:28283600-28289200	Strong transcription	Ovary	ovary
44	chr22:28283600-28300400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:28283600-28310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:28283800-28289200	Strong transcription	Brain Hippocampus Middle	brain
47	chr22:28283800-28289600	Strong transcription	Lung	lung
48	chr22:28283800-28290800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:28283800-28295400	Strong transcription	HSMM	muscle
50	chr22:28283800-28298400	Strong transcription	Duodenum Mucosa	Duodenum

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