Variant report

Variant	rs2447815
Chromosome Location	chr5:16588650-16588651
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	chr5:12109202..12110069-chr5:16588549..16589239,2	MCF-7	breast:
2	chr5:16588331..16589560-chr5:16626475..16627361,14	MCF-7	breast:
3	chr5:16588416..16589500-chr5:16674631..16675555,5	MCF-7	breast:
4	chr5:16588242..16589198-chr5:16744257..16744813,2	MCF-7	breast:
5	chr5:16588331..16589560-chr5:16626475..16627361,9	MCF-7	breast:
6	chr5:16588526..16589249-chr5:16628201..16629134,3	MCF-7	breast:
7	chr5:16588242..16589515-chr5:16744207..16745107,7	MCF-7	breast:
8	chr5:16588327..16590123-chr5:16591920..16594377,2	MCF-7	breast:
9	chr5:16588605..16589500-chr5:16674971..16675555,2	MCF-7	breast:

No data

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs173963	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs173972	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17650584	0.97[ASN][1000 genomes]
rs17650599	0.97[ASN][1000 genomes]
rs17650706	0.94[ASN][1000 genomes]
rs17707133	1.00[ASN][1000 genomes]
rs2447809	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2447810	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2447811	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2447812	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447813	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447816	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447817	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447818	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2451848	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2451849	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451850	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451852	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451853	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451854	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451855	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2451856	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2560825	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256878	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2617419	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs398274	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431154	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448021	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604535	1.00[ASN][1000 genomes]
rs62369751	0.97[ASN][1000 genomes]
rs62371269	1.00[ASN][1000 genomes]
rs62371271	0.91[ASN][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	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:16574800-16589800	Weak transcription	Thymus	Thymus
4	chr5:16575600-16591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:16578400-16606800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:16579400-16593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:16581000-16598400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:16581400-16593200	Weak transcription	Right Ventricle	heart
9	chr5:16581400-16596000	Weak transcription	Fetal Brain Female	brain
10	chr5:16583400-16591400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:16583400-16599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:16584400-16591200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:16584400-16592400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:16585400-16615600	Weak transcription	Primary B cells from cord blood	blood
15	chr5:16585600-16600000	Weak transcription	Gastric	stomach
16	chr5:16585800-16605000	Weak transcription	Fetal Intestine Large	intestine
17	chr5:16586000-16594800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:16586600-16593200	Weak transcription	Brain Germinal Matrix	brain
19	chr5:16587000-16591000	Strong transcription	Primary T cells from cord blood	blood
20	chr5:16587200-16590200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:16587200-16590400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:16587400-16589200	Enhancers	Brain Anterior Caudate	brain
23	chr5:16587400-16591600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:16587400-16593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:16587400-16600400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:16587600-16590400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:16587600-16596400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:16587600-16598200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:16587800-16589600	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:16587800-16590600	Enhancers	Brain Substantia Nigra	brain
31	chr5:16588000-16588800	Enhancers	Psoas Muscle	Psoas
32	chr5:16588000-16589000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:16588000-16589400	Enhancers	Brain Hippocampus Middle	brain
34	chr5:16588000-16590600	Enhancers	Liver	Liver
35	chr5:16588200-16590400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:16588400-16588800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:16588400-16589000	Enhancers	Brain Angular Gyrus	brain
38	chr5:16588400-16589000	Enhancers	Stomach Mucosa	stomach
39	chr5:16588400-16589600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:16588400-16590200	Enhancers	Pancreas	Pancrea
41	chr5:16588400-16590400	Enhancers	HepG2	liver
42	chr5:16588600-16589400	Enhancers	Adipose Nuclei	Adipose
43	chr5:16588600-16589400	Enhancers	Fetal Heart	heart
44	chr5:16588600-16590000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:16588600-16590000	Enhancers	Right Atrium	heart
46	chr5:16588600-16593200	Weak transcription	Left Ventricle	heart

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