Variant report

Variant	rs1009383
Chromosome Location	chr22:34253031-34253032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1002047	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1002048	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1573658	0.86[ASN][1000 genomes]
rs17736366	0.86[ASN][1000 genomes]
rs2051554	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2277840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2413204	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2413205	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4821189	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4821191	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5749683	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754712	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5754730	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5999125	0.86[ASN][1000 genomes]
rs715502	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs738967	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs762835	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8136475	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9621783	0.86[ASN][1000 genomes]
rs9621784	0.86[ASN][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	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
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv529886	chr22:34153740-34258847	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34247800-34263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34250000-34254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:34250000-34254000	Weak transcription	Spleen	Spleen
4	chr22:34250000-34256600	Weak transcription	Lung	lung
5	chr22:34250000-34256600	Weak transcription	Pancreas	Pancrea
6	chr22:34250000-34256800	Weak transcription	Gastric	stomach
7	chr22:34250000-34260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34250000-34261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:34250200-34255600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:34250200-34256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:34250200-34256800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:34250400-34255400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:34250400-34256600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:34250400-34256600	Weak transcription	Right Atrium	heart
15	chr22:34250600-34255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:34250600-34257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:34250600-34260000	Weak transcription	Fetal Intestine Small	intestine
18	chr22:34250600-34260400	Weak transcription	NHLF	lung
19	chr22:34250600-34260600	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:34250800-34255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:34250800-34255400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:34250800-34255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:34250800-34255600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr22:34250800-34261000	Weak transcription	Fetal Brain Male	brain
25	chr22:34251000-34253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:34251000-34254000	Weak transcription	Fetal Stomach	stomach
27	chr22:34251000-34255400	Weak transcription	Brain Angular Gyrus	brain
28	chr22:34251000-34255400	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:34251000-34257000	Weak transcription	Brain Anterior Caudate	brain
30	chr22:34251000-34257200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:34251000-34259000	Weak transcription	Fetal Intestine Large	intestine
32	chr22:34251000-34259200	Weak transcription	GM12878-XiMat	blood
33	chr22:34251000-34260400	Weak transcription	Brain Substantia Nigra	brain
34	chr22:34251000-34260400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr22:34251000-34269200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:34251200-34268000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:34251600-34255600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:34251600-34256600	Weak transcription	Ovary	ovary
39	chr22:34251600-34256800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:34252000-34255400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:34252400-34253400	Enhancers	Fetal Heart	heart
42	chr22:34252400-34267600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr22:34252600-34254000	Weak transcription	Left Ventricle	heart
44	chr22:34252800-34256400	Weak transcription	Right Ventricle	heart

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