Variant report

Variant	rs13056417
Chromosome Location	chr22:31278089-31278090
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:
2	chr22:31275930..31278516-chr22:31475630..31478083,2	K562	blood:
3	chr22:31197932..31200632-chr22:31277556..31279814,2	K562	blood:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12158241	1.00[AMR][1000 genomes]
rs12158547	1.00[AMR][1000 genomes]
rs12159387	1.00[AMR][1000 genomes]
rs12160041	1.00[AMR][1000 genomes]
rs12160446	1.00[AMR][1000 genomes]
rs12160613	1.00[AMR][1000 genomes]
rs12161052	1.00[AMR][1000 genomes]
rs5994354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994355	1.00[AMR][1000 genomes]
rs5994359	1.00[AMR][1000 genomes]
rs5994361	1.00[AMR][1000 genomes]
rs5997799	1.00[AFR][1000 genomes]
rs5997801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997804	1.00[AMR][1000 genomes]
rs5997805	1.00[AMR][1000 genomes]
rs5997809	1.00[AMR][1000 genomes]
rs5997813	1.00[AMR][1000 genomes]
rs5997814	1.00[AMR][1000 genomes]
rs5997815	1.00[AMR][1000 genomes]
rs5997816	1.00[AMR][1000 genomes]
rs5997817	1.00[AMR][1000 genomes]
rs5997819	1.00[AMR][1000 genomes]
rs5997825	1.00[AMR][1000 genomes]
rs5997826	1.00[AMR][1000 genomes]
rs5997827	1.00[AMR][1000 genomes]
rs5997828	1.00[AMR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv914974	chr22:31249333-31279536	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31269400-31284200	Weak transcription	NHEK	skin
4	chr22:31269800-31283400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:31270800-31278400	Enhancers	Fetal Muscle Leg	muscle
6	chr22:31272000-31278400	Enhancers	Right Ventricle	heart
7	chr22:31272200-31280600	Enhancers	Fetal Heart	heart
8	chr22:31273800-31278400	Enhancers	HSMMtube	muscle
9	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31275200-31278200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:31275200-31278400	Enhancers	Fetal Muscle Trunk	muscle
12	chr22:31275200-31284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:31275400-31280200	Weak transcription	Brain Anterior Caudate	brain
14	chr22:31275600-31283400	Weak transcription	Brain Germinal Matrix	brain
15	chr22:31275800-31283600	Weak transcription	HSMM	muscle
16	chr22:31275800-31284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:31275800-31285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
19	chr22:31276400-31283400	Weak transcription	Fetal Brain Female	brain
20	chr22:31276400-31283600	Weak transcription	Brain Substantia Nigra	brain
21	chr22:31276600-31280200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:31276800-31278200	Enhancers	Left Ventricle	heart
23	chr22:31276800-31278600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31277000-31278200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:31277000-31278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:31277000-31278800	Enhancers	A549	lung
27	chr22:31277000-31278800	Flanking Active TSS	HepG2	liver
28	chr22:31277200-31278200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:31277200-31278200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr22:31277200-31278200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr22:31277200-31278600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:31277200-31278600	Enhancers	Liver	Liver
33	chr22:31277400-31278200	Genic enhancers	Brain Inferior Temporal Lobe	brain
34	chr22:31277400-31278200	Enhancers	Gastric	stomach
35	chr22:31277400-31278400	Enhancers	Stomach Mucosa	stomach
36	chr22:31277400-31278400	Enhancers	Spleen	Spleen
37	chr22:31277400-31279400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:31277400-31280000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:31277600-31278400	Flanking Active TSS	Placenta	Placenta
40	chr22:31277600-31278800	Flanking Active TSS	Hela-S3	cervix
41	chr22:31277600-31279000	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr22:31277600-31279000	Active TSS	K562	blood
43	chr22:31277800-31278200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr22:31277800-31278200	Enhancers	Esophagus	oesophagus
45	chr22:31277800-31278200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr22:31277800-31278200	Enhancers	Right Atrium	heart
47	chr22:31277800-31278400	Enhancers	Pancreas	Pancrea
48	chr22:31277800-31278600	Flanking Active TSS	Fetal Lung	lung
49	chr22:31277800-31279200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain

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