Variant report

Variant	rs12053760
Chromosome Location	chr22:28300490-28300491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28296852..28298965-chr22:28300379..28302947,2	K562	blood:

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

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

rs_ID	r²[population]
rs16986969	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2142561	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2143181	0.86[ASN][1000 genomes]
rs2235574	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2294820	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5752658	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752671	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752672	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5762408	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs5762419	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762422	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762424	0.95[EUR][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	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr22:28277800-28308400	Strong transcription	Dnd41	blood
5	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
6	chr22:28280600-28308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:28281600-28308000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr22:28283000-28307000	Strong transcription	Fetal Intestine Large	intestine
9	chr22:28283200-28307600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:28283600-28310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:28283800-28304200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:28283800-28304200	Strong transcription	Fetal Thymus	thymus
13	chr22:28283800-28308000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:28284000-28300600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:28285000-28301800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:28286000-28309000	Weak transcription	Stomach Mucosa	stomach
17	chr22:28286200-28311400	Weak transcription	Right Atrium	heart
18	chr22:28288600-28309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:28289000-28312600	Weak transcription	Psoas Muscle	Psoas
20	chr22:28289400-28300600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:28292000-28305800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:28292400-28303200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:28292600-28307800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:28292800-28302800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr22:28292800-28306000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:28292800-28307200	Strong transcription	Liver	Liver
27	chr22:28292800-28309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr22:28293000-28305600	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:28293200-28306000	Weak transcription	Brain Anterior Caudate	brain
30	chr22:28293200-28309000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr22:28293400-28306600	Weak transcription	Hela-S3	cervix
32	chr22:28293800-28309200	Weak transcription	Brain Substantia Nigra	brain
33	chr22:28293800-28309600	Weak transcription	Right Ventricle	heart
34	chr22:28293800-28311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr22:28294000-28302000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr22:28294000-28302600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:28294000-28302600	Weak transcription	HSMMtube	muscle
38	chr22:28294000-28303200	Weak transcription	Esophagus	oesophagus
39	chr22:28294000-28305200	Weak transcription	Lung	lung
40	chr22:28294000-28309200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:28294400-28301200	Weak transcription	Ovary	ovary
42	chr22:28294400-28303200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:28294400-28303200	Weak transcription	Pancreas	Pancrea
44	chr22:28295200-28302000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr22:28295200-28302800	Weak transcription	Fetal Brain Male	brain
46	chr22:28295200-28303400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:28295200-28303600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:28295200-28305800	Weak transcription	Colon Smooth Muscle	Colon
49	chr22:28295200-28305800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr22:28295200-28309200	Weak transcription	Brain Angular Gyrus	brain

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