Variant report

Variant	rs1108750
Chromosome Location	chr22:27566498-27566499
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1519222	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs481258	0.82[ASN][1000 genomes]
rs6005319	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs738217	0.91[ASN][1000 genomes]
rs760523	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
6	nsv459861	chr22:27549141-27575542	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv588873	chr22:27549141-27575542	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2762118	chr22:27549920-27579317	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv459863	chr22:27550764-27575542	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv588874	chr22:27550764-27575542	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1063215	chr22:27557040-27581253	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27557200-27569800	Weak transcription	Fetal Brain Female	brain
2	chr22:27565400-27566800	Enhancers	Fetal Intestine Small	intestine
3	chr22:27565400-27567000	Enhancers	Duodenum Mucosa	Duodenum
4	chr22:27565400-27567200	Enhancers	Fetal Intestine Large	intestine
5	chr22:27566000-27567200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:27566000-27567200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:27566000-27567200	Enhancers	NHDF-Ad	bronchial
8	chr22:27566000-27567200	Enhancers	NHLF	lung
9	chr22:27566000-27567400	Enhancers	HSMM	muscle
10	chr22:27566000-27567800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:27566000-27568000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:27566200-27566600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr22:27566200-27566600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:27566200-27566800	Enhancers	Small Intestine	intestine
15	chr22:27566200-27567000	Enhancers	NH-A	brain
16	chr22:27566200-27567000	Flanking Active TSS	Osteobl	bone
17	chr22:27566200-27567200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:27566200-27567200	Enhancers	Aorta	Aorta
19	chr22:27566200-27567200	Enhancers	HSMMtube	muscle
20	chr22:27566200-27567400	Enhancers	Adipose Nuclei	Adipose
21	chr22:27566200-27567400	Enhancers	Rectal Smooth Muscle	rectum
22	chr22:27566200-27567400	Enhancers	Stomach Smooth Muscle	stomach
23	chr22:27566400-27566600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:27566400-27566800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:27566400-27566800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr22:27566400-27566800	Enhancers	HUVEC	blood vessel
27	chr22:27566400-27567000	Enhancers	Colon Smooth Muscle	Colon
28	chr22:27566400-27567200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr22:27566400-27567200	Enhancers	Ovary	ovary
30	chr22:27566400-27567200	Enhancers	A549	lung
31	chr22:27566400-27567400	Enhancers	Skeletal Muscle Female	skeletal muscle

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