Variant report

Variant	rs5997181
Chromosome Location	chr22:27546771-27546772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17432756	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2205642	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6519702	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9625158	0.92[AMR][1000 genomes];0.85[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	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27536600-27555000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:27545800-27546800	Enhancers	A549	lung
3	chr22:27545800-27546800	Enhancers	NH-A	brain
4	chr22:27545800-27547200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr22:27545800-27547200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:27545800-27547400	Enhancers	Primary hematopoietic stem cells	blood
7	chr22:27545800-27547400	Enhancers	Brain Germinal Matrix	brain
8	chr22:27545800-27547400	Enhancers	Fetal Stomach	stomach
9	chr22:27545800-27547800	Enhancers	Fetal Brain Male	brain
10	chr22:27545800-27548000	Enhancers	Fetal Brain Female	brain
11	chr22:27545800-27548200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr22:27545800-27551200	Enhancers	HUVEC	blood vessel
13	chr22:27546000-27546800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27546000-27546800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr22:27546000-27546800	Enhancers	HSMM	muscle
16	chr22:27546000-27547000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:27546000-27547000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr22:27546000-27547000	Enhancers	Lung	lung
19	chr22:27546000-27547000	Enhancers	Stomach Smooth Muscle	stomach
20	chr22:27546000-27547000	Enhancers	HSMMtube	muscle
21	chr22:27546000-27547200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr22:27546000-27547200	Enhancers	Spleen	Spleen
23	chr22:27546000-27547400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr22:27546000-27547400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:27546000-27547400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr22:27546000-27547400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr22:27546000-27547400	Enhancers	NHLF	lung
28	chr22:27546000-27547600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:27546200-27546800	Bivalent Enhancer	Fetal Lung	lung
30	chr22:27546200-27547000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:27546200-27547400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:27546200-27547400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr22:27546400-27546800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:27546400-27546800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:27546400-27546800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr22:27546400-27547000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr22:27546400-27547000	Enhancers	NHEK	skin
38	chr22:27546400-27547600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:27546600-27546800	Active TSS	Duodenum Mucosa	Duodenum
40	chr22:27546600-27546800	Bivalent Enhancer	Fetal Kidney	kidney
41	chr22:27546600-27546800	Bivalent Enhancer	NHDF-Ad	bronchial
42	chr22:27546600-27547000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:27546600-27547000	Enhancers	Osteobl	bone
44	chr22:27546600-27547400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:27546600-27549400	Weak transcription	Gastric	stomach
46	chr22:27546600-27550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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