Variant report

Variant	rs73882445
Chromosome Location	chr22:29439538-29439539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29426264..29428504-chr22:29439113..29440872,2	K562	blood:
2	chr22:29195509..29198134-chr22:29437512..29441446,4	K562	blood:
3	chr22:29437866..29439720-chr22:29487851..29489925,2	MCF-7	breast:
4	chr22:29436460..29439991-chr22:29442261..29446083,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11912894	1.00[EUR][1000 genomes]
rs11913224	1.00[EUR][1000 genomes]
rs11913805	1.00[EUR][1000 genomes]
rs55665300	1.00[EUR][1000 genomes]
rs55945584	1.00[EUR][1000 genomes]
rs56089216	1.00[EUR][1000 genomes]
rs56332784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57119189	1.00[EUR][1000 genomes]
rs57188271	1.00[EUR][1000 genomes]
rs57198336	1.00[EUR][1000 genomes]
rs57305931	1.00[AMR][1000 genomes]
rs57846969	1.00[EUR][1000 genomes]
rs58089713	1.00[EUR][1000 genomes]
rs58162235	1.00[EUR][1000 genomes]
rs58221763	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59519868	1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs60003056	1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60187407	1.00[EUR][1000 genomes]
rs60747358	1.00[EUR][1000 genomes]
rs61581392	1.00[EUR][1000 genomes]
rs722590	1.00[EUR][1000 genomes]
rs7287244	1.00[EUR][1000 genomes]
rs73881187	1.00[EUR][1000 genomes]
rs73881189	1.00[EUR][1000 genomes]
rs73881197	1.00[EUR][1000 genomes]
rs73881200	1.00[EUR][1000 genomes]
rs73881201	1.00[EUR][1000 genomes]
rs73882404	1.00[EUR][1000 genomes]
rs73882405	1.00[EUR][1000 genomes]
rs73882406	1.00[EUR][1000 genomes]
rs73882414	1.00[EUR][1000 genomes]
rs73882416	1.00[AMR][1000 genomes]
rs73882418	1.00[AMR][1000 genomes]
rs73882422	1.00[EUR][1000 genomes]
rs73882424	1.00[EUR][1000 genomes]
rs73882428	1.00[EUR][1000 genomes]
rs73882440	1.00[EUR][1000 genomes]
rs73882443	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73882447	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73882449	1.00[EUR][1000 genomes]
rs8138963	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427400-29448400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
3	chr22:29428000-29441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:29428600-29440400	Weak transcription	Esophagus	oesophagus
5	chr22:29428600-29440800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:29428800-29443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29429000-29440600	Weak transcription	Colonic Mucosa	Colon
8	chr22:29429000-29444000	Weak transcription	Right Ventricle	heart
9	chr22:29433800-29440600	Weak transcription	Lung	lung
10	chr22:29435400-29440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29435400-29440400	Weak transcription	Gastric	stomach
12	chr22:29436400-29440800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr22:29436600-29439600	Weak transcription	Left Ventricle	heart
14	chr22:29436600-29440000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:29436800-29441200	Genic enhancers	HepG2	liver
16	chr22:29436800-29442600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29436800-29443800	Weak transcription	Hela-S3	cervix
18	chr22:29436800-29445600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr22:29437200-29439600	Weak transcription	Fetal Kidney	kidney
20	chr22:29437200-29440000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:29437200-29440000	Weak transcription	Ovary	ovary
22	chr22:29437200-29440000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr22:29437200-29440400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:29437200-29440400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr22:29437200-29440600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:29437200-29440600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:29437200-29441400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:29437200-29442200	Weak transcription	Small Intestine	intestine
29	chr22:29437200-29443000	Weak transcription	K562	blood
30	chr22:29437200-29443200	Weak transcription	Brain Angular Gyrus	brain
31	chr22:29437200-29443800	Weak transcription	Fetal Heart	heart
32	chr22:29437200-29450800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr22:29437400-29439600	Weak transcription	Brain Substantia Nigra	brain
34	chr22:29437400-29440000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:29437600-29439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:29437600-29440400	Weak transcription	Fetal Brain Female	brain
37	chr22:29437600-29440800	Weak transcription	Adipose Nuclei	Adipose
38	chr22:29437800-29439600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr22:29437800-29439600	Weak transcription	HSMMtube	muscle
40	chr22:29437800-29439800	Weak transcription	Stomach Mucosa	stomach
41	chr22:29437800-29440000	Weak transcription	Fetal Lung	lung
42	chr22:29437800-29448800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr22:29437800-29450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29438000-29439600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:29438000-29439600	Weak transcription	HMEC	breast
46	chr22:29438000-29440000	Weak transcription	Dnd41	blood
47	chr22:29438000-29440600	Weak transcription	Colon Smooth Muscle	Colon
48	chr22:29438000-29442000	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:29438000-29442800	Weak transcription	Fetal Brain Male	brain
50	chr22:29438000-29447200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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