Variant report

Variant	rs8142725
Chromosome Location	chr22:29709359-29709360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29708019..29709690-chr22:29721356..29724944,3	MCF-7	breast:
2	chr22:29707397..29709984-chr22:29754201..29756527,2	MCF-7	breast:
3	chr22:29708527..29710108-chr22:29782946..29784507,2	K562	blood:
4	chr22:29707630..29710061-chr22:29735092..29737688,2	K562	blood:
5	chr22:29709318..29711551-chr22:29712533..29715035,2	K562	blood:
6	chr22:29706961..29711668-chr22:29712911..29717067,5	MCF-7	breast:
7	chr22:29194146..29196945-chr22:29707934..29709820,2	MCF-7	breast:
8	chr22:29704698..29709036-chr22:29709270..29712865,10	MCF-7	breast:
9	chr22:29700857..29704420-chr22:29708764..29712339,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273216	Chromatin interaction
ENSG00000100280	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000100276	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11912931	1.00[AMR][1000 genomes]
rs11913102	1.00[AMR][1000 genomes]
rs12157995	1.00[AMR][1000 genomes]
rs2228323	1.00[AMR][1000 genomes]
rs2231395	1.00[AMR][1000 genomes]
rs5997464	1.00[AMR][1000 genomes]
rs5997468	1.00[AMR][1000 genomes]
rs5997469	1.00[AMR][1000 genomes]
rs6006092	1.00[AMR][1000 genomes]
rs6006094	1.00[AMR][1000 genomes]
rs6006097	1.00[AMR][1000 genomes]
rs6006099	1.00[AMR][1000 genomes]
rs6006117	1.00[AMR][1000 genomes]
rs60098244	1.00[AMR][1000 genomes]
rs60976358	1.00[AMR][1000 genomes]
rs7287665	1.00[AMR][1000 genomes]
rs8143120	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29703800-29709400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:29704000-29709600	Enhancers	Placenta	Placenta
3	chr22:29706600-29711000	Bivalent Enhancer	Fetal Stomach	stomach
4	chr22:29707400-29709800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:29707400-29710400	Weak transcription	K562	blood
6	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
7	chr22:29707600-29709400	Enhancers	Brain Substantia Nigra	brain
8	chr22:29707600-29709400	Weak transcription	HepG2	liver
9	chr22:29707600-29710000	Bivalent Enhancer	Fetal Brain Male	brain
10	chr22:29708000-29709400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:29708000-29709400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:29708000-29709600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:29708000-29709600	Weak transcription	HMEC	breast
14	chr22:29708000-29709800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:29708000-29710200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
16	chr22:29708000-29710400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:29708200-29709400	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr22:29708200-29709400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr22:29708400-29709400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr22:29708400-29709800	Weak transcription	Brain Angular Gyrus	brain
21	chr22:29708400-29711400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr22:29708600-29709800	Enhancers	Duodenum Mucosa	Duodenum
23	chr22:29708600-29709800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr22:29708600-29711000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr22:29708600-29711200	Enhancers	Lung	lung
26	chr22:29708800-29709600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr22:29708800-29709800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
28	chr22:29708800-29709800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr22:29708800-29710600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr22:29708800-29710800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr22:29708800-29710800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:29708800-29712200	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr22:29709000-29709400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29709000-29709400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:29709000-29709400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:29709000-29709400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr22:29709000-29709400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr22:29709000-29709400	Enhancers	Fetal Heart	heart
39	chr22:29709000-29709400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr22:29709000-29709600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
41	chr22:29709000-29710000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
42	chr22:29709000-29710000	Enhancers	Right Atrium	heart
43	chr22:29709000-29710200	Enhancers	Right Ventricle	heart
44	chr22:29709000-29710600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:29709000-29710800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:29709000-29710800	Enhancers	Left Ventricle	heart
47	chr22:29709000-29710800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr22:29709000-29711000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr22:29709000-29711000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:29709000-29711000	Bivalent Enhancer	Fetal Intestine Large	intestine

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