Variant report

Variant	rs8137330
Chromosome Location	chr22:33724514-33724515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1041875	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12484156	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12484639	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1807662	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1967965	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2157197	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267189	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267190	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267191	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285105	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35340305	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3884933	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs739022	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8138543	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8142819	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9607031	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9609759	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1060896	chr22:33698546-33729763	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1059522	chr22:33706201-33728482	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
3	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
6	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:33696200-33725000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
9	chr22:33696400-33725000	Weak transcription	Stomach Mucosa	stomach
10	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:33699400-33731800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:33710400-33733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:33710400-33733400	Weak transcription	Spleen	Spleen
14	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:33710800-33726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:33710800-33726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:33711200-33735800	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:33711400-33726800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:33711400-33733000	Weak transcription	Brain Anterior Caudate	brain
20	chr22:33711600-33731800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:33712200-33724800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:33712200-33725000	Weak transcription	Fetal Intestine Large	intestine
23	chr22:33712200-33725000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr22:33712200-33730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:33712200-33731600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:33712200-33732600	Weak transcription	Brain Hippocampus Middle	brain
27	chr22:33712200-33733200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:33712200-33735200	Weak transcription	Brain Angular Gyrus	brain
29	chr22:33712400-33724800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr22:33712400-33726400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:33712400-33729400	Weak transcription	Ovary	ovary
32	chr22:33712400-33730600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:33712400-33730600	Weak transcription	Gastric	stomach
34	chr22:33712400-33733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:33712400-33733200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:33712400-33733200	Weak transcription	Lung	lung
37	chr22:33712400-33735000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:33712600-33724800	Weak transcription	Fetal Intestine Small	intestine
39	chr22:33712600-33730000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:33712600-33733400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:33716200-33735600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:33718800-33731800	Weak transcription	Adipose Nuclei	Adipose
43	chr22:33719600-33725400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:33721400-33724800	Weak transcription	HepG2	liver
45	chr22:33721800-33725200	Weak transcription	NHEK	skin
46	chr22:33721800-33730600	Weak transcription	Fetal Kidney	kidney
47	chr22:33723200-33725000	Weak transcription	Left Ventricle	heart
48	chr22:33723200-33725800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:33723200-33728600	Weak transcription	Right Ventricle	heart
50	chr22:33723200-33732600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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