Variant report

Variant	rs5762219
Chromosome Location	chr22:27908462-27908463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs11913376	1.00[AMR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs16984497	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs16985163	1.00[AMR][1000 genomes]
rs2008329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2065061	1.00[EUR][1000 genomes]
rs5752574	1.00[EUR][1000 genomes]
rs5762216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes]
rs6005462	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes]
rs6005473	1.00[EUR][1000 genomes]
rs6005474	1.00[EUR][1000 genomes]
rs6005475	1.00[EUR][1000 genomes]
rs6005478	1.00[EUR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	1.00[EUR][1000 genomes]
rs738564	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27906000-27908800	Enhancers	Fetal Muscle Trunk	muscle
2	chr22:27906400-27908800	Enhancers	Right Atrium	heart
3	chr22:27906600-27914000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:27907000-27908600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:27907000-27909200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:27907200-27908600	Weak transcription	HSMMtube	muscle
7	chr22:27907200-27908800	Enhancers	Fetal Muscle Leg	muscle
8	chr22:27907600-27909000	Enhancers	NH-A	brain
9	chr22:27907600-27910000	Enhancers	HMEC	breast
10	chr22:27907800-27909000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:27907800-27909000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:27907800-27909000	Enhancers	Fetal Lung	lung
13	chr22:27907800-27909000	Enhancers	HSMM	muscle
14	chr22:27907800-27909000	Flanking Active TSS	NHEK	skin
15	chr22:27907800-27909200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:27907800-27909200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:27908000-27908800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:27908000-27909000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:27908000-27909000	Enhancers	Ovary	ovary
20	chr22:27908000-27909000	Enhancers	Osteobl	bone
21	chr22:27908000-27909200	Enhancers	Fetal Stomach	stomach
22	chr22:27908000-27909200	Enhancers	Hela-S3	cervix
23	chr22:27908200-27908600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr22:27908200-27908600	Enhancers	Brain Germinal Matrix	brain
25	chr22:27908200-27908600	Enhancers	Placenta	Placenta
26	chr22:27908200-27908600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr22:27908200-27908600	Enhancers	Stomach Smooth Muscle	stomach
28	chr22:27908200-27908800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:27908200-27908800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:27908200-27908800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:27908200-27908800	Enhancers	Aorta	Aorta
32	chr22:27908200-27908800	Enhancers	Esophagus	oesophagus
33	chr22:27908200-27908800	Enhancers	Gastric	stomach
34	chr22:27908200-27908800	Enhancers	Lung	lung
35	chr22:27908200-27908800	Enhancers	Pancreas	Pancrea
36	chr22:27908200-27908800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr22:27908200-27908800	Enhancers	Stomach Mucosa	stomach
38	chr22:27908200-27909000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:27908200-27909000	Enhancers	Psoas Muscle	Psoas
40	chr22:27908200-27909000	Enhancers	NHDF-Ad	bronchial
41	chr22:27908400-27908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:27908400-27908600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr22:27908400-27908600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr22:27908400-27908600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr22:27908400-27908600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:27908400-27908600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:27908400-27908600	Enhancers	HUVEC	blood vessel
48	chr22:27908400-27908600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr22:27908400-27908600	Enhancers	NHLF	lung
50	chr22:27908400-27908800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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