Variant report

Variant	rs9621129
Chromosome Location	chr22:31284862-31284863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089483	1.00[EUR][1000 genomes]
rs12166075	1.00[EUR][1000 genomes]
rs12166445	1.00[EUR][1000 genomes]
rs12166521	1.00[EUR][1000 genomes]
rs12166797	1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[EUR][1000 genomes]
rs12168997	1.00[EUR][1000 genomes]
rs12169136	1.00[EUR][1000 genomes]
rs13433649	1.00[EUR][1000 genomes]
rs16989109	1.00[EUR][1000 genomes]
rs16989230	1.00[EUR][1000 genomes]
rs28428739	1.00[EUR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs7284605	1.00[EUR][1000 genomes]
rs9619138	1.00[EUR][1000 genomes]
rs9619139	1.00[EUR][1000 genomes]
rs9619140	1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	1.00[EUR][1000 genomes]
rs9621106	1.00[EUR][1000 genomes]
rs9621111	1.00[EUR][1000 genomes]
rs9621121	1.00[EUR][1000 genomes]
rs9621131	1.00[EUR][1000 genomes]
rs9621146	1.00[EUR][1000 genomes]
rs9621150	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:87 , 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	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31275800-31285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
6	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
7	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:31278200-31285200	Weak transcription	Esophagus	oesophagus
9	chr22:31278200-31286600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:31278400-31286200	Weak transcription	Fetal Muscle Leg	muscle
12	chr22:31278400-31288600	Weak transcription	HSMMtube	muscle
13	chr22:31278400-31291800	Weak transcription	HMEC	breast
14	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:31278600-31285600	Weak transcription	Liver	Liver
17	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
19	chr22:31278800-31301600	Weak transcription	A549	lung
20	chr22:31279400-31288600	Weak transcription	Hela-S3	cervix
21	chr22:31279600-31285600	Weak transcription	HepG2	liver
22	chr22:31280000-31285000	Weak transcription	Right Ventricle	heart
23	chr22:31280000-31285200	Weak transcription	Left Ventricle	heart
24	chr22:31280200-31287200	Genic enhancers	Fetal Intestine Small	intestine
25	chr22:31280200-31288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr22:31281400-31288800	Weak transcription	Lung	lung
27	chr22:31281600-31285200	Weak transcription	Brain Angular Gyrus	brain
28	chr22:31281600-31286600	Weak transcription	K562	blood
29	chr22:31282000-31285200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:31282200-31285000	Weak transcription	Primary T cells from cord blood	blood
31	chr22:31282200-31285600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:31282200-31289000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr22:31282200-31289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr22:31282400-31285400	Weak transcription	Adipose Nuclei	Adipose
36	chr22:31282400-31285600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:31282600-31287800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr22:31282600-31287800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr22:31283000-31285000	Weak transcription	Ovary	ovary
41	chr22:31283000-31287200	Genic enhancers	Fetal Intestine Large	intestine
42	chr22:31283000-31290600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
44	chr22:31283200-31285000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:31283200-31289800	Strong transcription	Spleen	Spleen
46	chr22:31283200-31290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:31283400-31285200	Weak transcription	Aorta	Aorta
48	chr22:31283400-31286600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr22:31283400-31286600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr22:31283400-31286800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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