Variant report

Variant	rs58697440
Chromosome Location	chr12:117500488-117500489
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	chr12:117498452..117500621-chr12:117503397..117505307,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10850749	1.00[EUR][1000 genomes]
rs12313807	1.00[EUR][1000 genomes]
rs12318749	0.95[EUR][1000 genomes]
rs3782194	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs57066310	1.00[EUR][1000 genomes]
rs57212223	1.00[EUR][1000 genomes]
rs58547422	0.95[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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:117495400-117502600	Weak transcription	A549	lung
4	chr12:117497800-117500800	Enhancers	Primary B cells from cord blood	blood
5	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:117498000-117500600	Enhancers	Fetal Thymus	thymus
7	chr12:117498200-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:117498400-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:117498600-117500600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:117498600-117500800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:117498600-117502000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:117498800-117500600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:117498800-117500600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:117498800-117500800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:117498800-117500800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:117498800-117501000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:117498800-117501000	Enhancers	Brain Anterior Caudate	brain
18	chr12:117498800-117501400	Enhancers	Stomach Mucosa	stomach
19	chr12:117498800-117514600	Strong transcription	HepG2	liver
20	chr12:117499000-117500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:117499000-117500600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:117499000-117500800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:117499000-117500800	Weak transcription	Esophagus	oesophagus
24	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:117499200-117500600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:117499200-117500600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:117499200-117502200	Weak transcription	Brain Substantia Nigra	brain
28	chr12:117499200-117507600	Weak transcription	Right Atrium	heart
29	chr12:117499200-117507800	Weak transcription	Lung	lung
30	chr12:117499400-117500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:117499400-117500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:117499600-117500600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:117499600-117500600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:117499600-117500600	Weak transcription	Pancreas	Pancrea
35	chr12:117499600-117500600	Weak transcription	Right Ventricle	heart
36	chr12:117499600-117500600	Weak transcription	Spleen	Spleen
37	chr12:117499600-117500800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:117499600-117500800	Weak transcription	Fetal Heart	heart
39	chr12:117499600-117506800	Weak transcription	K562	blood
40	chr12:117499600-117512400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:117500200-117501600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:117500200-117501800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:117500400-117500600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:117500400-117500600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:117500400-117500600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:117500400-117500600	Enhancers	Brain Cingulate Gyrus	brain
47	chr12:117500400-117500600	Enhancers	Left Ventricle	heart
48	chr12:117500400-117500800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:117500400-117500800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:117500400-117500800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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