Variant report

Variant	rs58634529
Chromosome Location	chr22:34221621-34221622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1005680	1.00[ASN][1000 genomes]
rs10483174	1.00[ASN][1000 genomes]
rs11703305	1.00[ASN][1000 genomes]
rs11704212	1.00[ASN][1000 genomes]
rs11705063	1.00[ASN][1000 genomes]
rs11912301	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912405	1.00[ASN][1000 genomes]
rs11913804	1.00[ASN][1000 genomes]
rs11914012	1.00[ASN][1000 genomes]
rs130523	1.00[ASN][1000 genomes]
rs13055480	1.00[ASN][1000 genomes]
rs16993078	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16993089	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747599	1.00[ASN][1000 genomes]
rs2413206	1.00[ASN][1000 genomes]
rs2413208	1.00[ASN][1000 genomes]
rs34060203	1.00[ASN][1000 genomes]
rs34290110	1.00[ASN][1000 genomes]
rs34375307	1.00[ASN][1000 genomes]
rs34455747	1.00[ASN][1000 genomes]
rs34597805	1.00[ASN][1000 genomes]
rs34871405	1.00[ASN][1000 genomes]
rs35838699	1.00[ASN][1000 genomes]
rs36006309	1.00[ASN][1000 genomes]
rs55819147	1.00[ASN][1000 genomes]
rs55963330	1.00[ASN][1000 genomes]
rs5749698	1.00[ASN][1000 genomes]
rs5754739	1.00[ASN][1000 genomes]
rs5754746	1.00[ASN][1000 genomes]
rs5999089	1.00[ASN][1000 genomes]
rs67258059	1.00[ASN][1000 genomes]
rs73154536	1.00[ASN][1000 genomes]
rs73154574	1.00[ASN][1000 genomes]
rs73170572	1.00[ASN][1000 genomes]
rs73170587	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170592	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170593	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170600	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171909	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171910	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171912	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171913	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171915	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171921	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171926	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171927	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171931	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738987	1.00[ASN][1000 genomes]
rs738989	1.00[ASN][1000 genomes]
rs933215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	nsv526550	chr22:34204930-34221959	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1056001	chr22:34206144-34221959	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34200600-34234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34213000-34228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:34213200-34232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:34213400-34225800	Weak transcription	Fetal Brain Male	brain
5	chr22:34215200-34225800	Weak transcription	Fetal Stomach	stomach
6	chr22:34216600-34222400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr22:34216800-34227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:34217000-34226200	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:34217400-34221800	Enhancers	NHDF-Ad	bronchial
10	chr22:34217400-34222400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr22:34217800-34222600	Enhancers	Psoas Muscle	Psoas
12	chr22:34217800-34222800	Enhancers	Left Ventricle	heart
13	chr22:34218200-34221800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:34218200-34222000	Enhancers	Right Atrium	heart
15	chr22:34218400-34222600	Enhancers	Fetal Heart	heart
16	chr22:34218800-34222400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:34219400-34221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:34219600-34222200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr22:34219800-34224200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:34219800-34225800	Weak transcription	Pancreas	Pancrea
21	chr22:34219800-34226400	Weak transcription	Brain Anterior Caudate	brain
22	chr22:34219800-34227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:34219800-34228400	Weak transcription	Esophagus	oesophagus
24	chr22:34219800-34231800	Weak transcription	Aorta	Aorta
25	chr22:34220000-34225600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:34220000-34227800	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:34220000-34228000	Weak transcription	Stomach Mucosa	stomach
28	chr22:34220000-34228400	Weak transcription	Brain Substantia Nigra	brain
29	chr22:34220400-34222200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr22:34220600-34226200	Weak transcription	Gastric	stomach
31	chr22:34220600-34227800	Weak transcription	Ovary	ovary
32	chr22:34220800-34222000	Enhancers	Right Ventricle	heart
33	chr22:34220800-34222200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr22:34221000-34221800	Enhancers	Brain Cingulate Gyrus	brain
35	chr22:34221000-34222200	Enhancers	Brain Angular Gyrus	brain
36	chr22:34221000-34227800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:34221200-34231400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:34221400-34221800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr22:34221400-34222200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr22:34221600-34221800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:34221600-34221800	Enhancers	Spleen	Spleen
42	chr22:34221600-34222000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:34221600-34222000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr22:34221600-34222000	Enhancers	Lung	lung
45	chr22:34221600-34222000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr22:34221600-34222200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr22:34221600-34222200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:34221600-34222200	Enhancers	HSMMtube	muscle
49	chr22:34221600-34222400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr22:34221600-34222400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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