Variant report

Variant	rs55929802
Chromosome Location	chr22:34269326-34269327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17808940	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5999118	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
9	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
10	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
11	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
12	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34256200-34269600	Enhancers	Fetal Heart	heart
2	chr22:34257200-34269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr22:34257600-34269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:34261200-34269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:34261800-34270400	Weak transcription	Liver	Liver
6	chr22:34263800-34269800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:34264000-34271200	Weak transcription	HSMM	muscle
8	chr22:34264600-34269400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:34264800-34279400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:34265600-34271400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:34265800-34269400	Weak transcription	Aorta	Aorta
12	chr22:34265800-34269600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:34266800-34269400	Weak transcription	Psoas Muscle	Psoas
14	chr22:34266800-34270000	Enhancers	GM12878-XiMat	blood
15	chr22:34267600-34270600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:34267600-34271000	Enhancers	Primary B cells from peripheral blood	blood
17	chr22:34268000-34269800	Enhancers	Spleen	Spleen
18	chr22:34268000-34270000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:34268000-34270200	Enhancers	Gastric	stomach
20	chr22:34268000-34270400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:34268000-34270400	Enhancers	Lung	lung
22	chr22:34268000-34270600	Enhancers	Right Atrium	heart
23	chr22:34268000-34271400	Enhancers	Stomach Mucosa	stomach
24	chr22:34268000-34272600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr22:34268200-34269400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:34268200-34269400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:34268600-34270000	Enhancers	NHLF	lung
28	chr22:34268800-34270800	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:34269000-34269800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:34269000-34269800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:34269000-34269800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:34269000-34269800	Enhancers	Adipose Nuclei	Adipose
33	chr22:34269000-34269800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr22:34269000-34269800	Enhancers	Fetal Brain Female	brain
35	chr22:34269000-34269800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr22:34269000-34269800	Enhancers	NHEK	skin
37	chr22:34269000-34270000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr22:34269000-34270000	Enhancers	NHDF-Ad	bronchial
39	chr22:34269000-34270200	Enhancers	Rectal Smooth Muscle	rectum
40	chr22:34269000-34270400	Enhancers	Fetal Muscle Trunk	muscle
41	chr22:34269000-34270600	Enhancers	Ovary	ovary
42	chr22:34269000-34270600	Enhancers	Stomach Smooth Muscle	stomach
43	chr22:34269000-34271000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:34269000-34271600	Enhancers	Colonic Mucosa	Colon
45	chr22:34269000-34271800	Enhancers	HSMMtube	muscle
46	chr22:34269000-34272000	Enhancers	Colon Smooth Muscle	Colon
47	chr22:34269000-34272000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr22:34269000-34272200	Enhancers	Fetal Lung	lung
49	chr22:34269000-34272200	Enhancers	Fetal Muscle Leg	muscle
50	chr22:34269000-34272400	Enhancers	Right Ventricle	heart

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