Variant report

Variant	rs5998906
Chromosome Location	chr22:33787272-33787273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1033373	0.96[ASN][1000 genomes]
rs1033375	0.96[ASN][1000 genomes]
rs11089623	0.90[ASN][1000 genomes]
rs11705582	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12484626	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13347210	0.96[ASN][1000 genomes]
rs16992213	0.95[ASN][1000 genomes]
rs16992256	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1807700	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2009700	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2179057	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283898	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2283899	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2283901	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2283902	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2413181	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2413182	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998905	0.91[ASN][1000 genomes]
rs5998917	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60262384	0.96[ASN][1000 genomes]
rs60435865	0.96[ASN][1000 genomes]
rs62225265	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715487	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7285067	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7285513	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7290813	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8142296	0.96[ASN][1000 genomes]
rs9607037	0.96[ASN][1000 genomes]
rs9607040	0.96[ASN][1000 genomes]
rs9609775	0.96[ASN][1000 genomes]
rs9609776	0.96[ASN][1000 genomes]
rs9609778	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9609779	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
6	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
7	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
8	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
9	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	esv1835065	chr22:33758698-33798116	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
14	esv1840336	chr22:33780897-33798116	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
3	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr22:33778000-33790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:33778000-33797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:33778200-33800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr22:33778600-33798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:33778600-33801000	Weak transcription	GM12878-XiMat	blood
10	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
11	chr22:33778800-33789600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:33778800-33796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:33778800-33796800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:33778800-33800400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:33779000-33800000	Weak transcription	Fetal Intestine Small	intestine
16	chr22:33780000-33818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:33780200-33802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:33780400-33796600	Weak transcription	Right Ventricle	heart
19	chr22:33780600-33789400	Weak transcription	Ovary	ovary
20	chr22:33780600-33789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:33780600-33796600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr22:33780600-33796800	Weak transcription	Left Ventricle	heart
23	chr22:33780600-33805200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:33780600-33834000	Weak transcription	Gastric	stomach
25	chr22:33780800-33789400	Weak transcription	Fetal Intestine Large	intestine
26	chr22:33780800-33823000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:33781000-33796600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:33781200-33790000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:33781200-33793600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:33781200-33796200	Weak transcription	Fetal Stomach	stomach
31	chr22:33781200-33814800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr22:33786000-33787400	Enhancers	Fetal Lung	lung
33	chr22:33786600-33787800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:33786600-33789600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:33786600-33795800	Weak transcription	Fetal Heart	heart
36	chr22:33787200-33788800	Enhancers	Liver	Liver
37	chr22:33787200-33790800	Enhancers	HepG2	liver

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