Variant report

Variant	rs5994711
Chromosome Location	chr22:33686917-33686918
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16992067	0.89[AMR][1000 genomes]
rs5994709	0.89[AMR][1000 genomes]
rs5994712	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994713	0.89[AMR][1000 genomes]
rs5994714	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998845	0.89[AMR][1000 genomes]
rs5998846	0.89[AMR][1000 genomes]
rs5998847	0.89[AMR][1000 genomes]
rs5998848	0.89[AMR][1000 genomes]
rs5998851	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998852	0.89[AMR][1000 genomes]
rs5998853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998856	1.00[AMR][1000 genomes]
rs5998857	1.00[AMR][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	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1055475	chr22:33680854-33710571	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33667200-33697800	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:33668400-33697800	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
7	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
8	chr22:33669600-33698200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:33670400-33698200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:33670600-33699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:33671400-33688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:33672600-33711800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:33673000-33695800	Weak transcription	Fetal Lung	lung
14	chr22:33673200-33698200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:33673200-33698200	Weak transcription	Brain Substantia Nigra	brain
16	chr22:33673200-33709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:33673200-33710000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:33673400-33691200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
20	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:33673600-33690600	Weak transcription	Adipose Nuclei	Adipose
22	chr22:33673800-33700000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:33674200-33692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr22:33674200-33695600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:33674400-33698200	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:33674600-33688600	Weak transcription	Fetal Heart	heart
27	chr22:33675200-33696400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:33677200-33694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:33677200-33695600	Weak transcription	Pancreas	Pancrea
31	chr22:33677400-33698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr22:33677600-33709600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:33679000-33692200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:33679200-33691600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:33679200-33695600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:33679200-33698000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:33679200-33698200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:33679200-33698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:33679200-33709600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:33679400-33689000	Weak transcription	Fetal Intestine Large	intestine
41	chr22:33679400-33690600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:33679400-33694000	Weak transcription	Aorta	Aorta
43	chr22:33679400-33695600	Weak transcription	Liver	Liver
44	chr22:33679400-33698000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr22:33679400-33698000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr22:33679400-33698400	Weak transcription	Brain Angular Gyrus	brain
47	chr22:33679400-33705600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr22:33679400-33709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr22:33679400-33713800	Weak transcription	Brain Germinal Matrix	brain
50	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain

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