Variant report

Variant	rs12440116
Chromosome Location	chr15:57433696-57433697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57431669..57434658-chr15:57445246..57447900,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11854006	0.88[EUR][1000 genomes]
rs12437777	0.92[EUR][1000 genomes]
rs12438151	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438244	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12438428	0.84[EUR][1000 genomes]
rs12438464	0.92[EUR][1000 genomes]
rs12438893	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439010	0.92[EUR][1000 genomes]
rs12439149	0.84[EUR][1000 genomes]
rs12439266	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12440699	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440729	0.84[EUR][1000 genomes]
rs12440790	0.84[EUR][1000 genomes]
rs12441185	0.84[EUR][1000 genomes]
rs12441200	0.84[EUR][1000 genomes]
rs12441263	0.84[EUR][1000 genomes]
rs12441888	0.85[EUR][1000 genomes]
rs12442042	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442238	0.84[EUR][1000 genomes]
rs12442326	0.92[EUR][1000 genomes]
rs12442521	0.84[EUR][1000 genomes]
rs12443085	0.84[EUR][1000 genomes]
rs1462157	0.84[EUR][1000 genomes]
rs16977201	0.88[EUR][1000 genomes]
rs17238992	0.84[EUR][1000 genomes]
rs17239020	0.80[EUR][1000 genomes]
rs17239047	0.92[EUR][1000 genomes]
rs17239068	0.92[EUR][1000 genomes]
rs17239089	0.92[EUR][1000 genomes]
rs17239187	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17239208	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239215	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239313	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17819755	0.92[EUR][1000 genomes]
rs17819779	0.92[EUR][1000 genomes]
rs17819809	0.92[EUR][1000 genomes]
rs17819839	0.96[EUR][1000 genomes]
rs17819886	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17819994	0.84[EUR][1000 genomes]
rs17820006	0.84[EUR][1000 genomes]
rs1816322	0.92[EUR][1000 genomes]
rs2126398	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2414496	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4320591	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4514619	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031866	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57387600-57442400	Weak transcription	Fetal Intestine Large	intestine
2	chr15:57410600-57440800	Weak transcription	Ovary	ovary
3	chr15:57415000-57438800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr15:57415600-57438800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:57416000-57438800	Weak transcription	Primary B cells from cord blood	blood
6	chr15:57419600-57439000	Weak transcription	Fetal Intestine Small	intestine
7	chr15:57421800-57436600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:57425800-57434800	Strong transcription	Fetal Thymus	thymus
9	chr15:57425800-57438800	Weak transcription	HSMM	muscle
10	chr15:57425800-57440800	Weak transcription	Thymus	Thymus
11	chr15:57425800-57442200	Weak transcription	Right Ventricle	heart
12	chr15:57426800-57436200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:57426800-57438400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:57427200-57440000	Weak transcription	Fetal Stomach	stomach
15	chr15:57427400-57436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:57427400-57439000	Weak transcription	A549	lung
17	chr15:57427400-57442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:57427600-57440600	Weak transcription	Dnd41	blood
19	chr15:57428200-57437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:57428400-57434600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:57428400-57438800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:57428400-57442200	Weak transcription	Primary T cells from cord blood	blood
23	chr15:57428600-57435600	Weak transcription	Osteobl	bone
24	chr15:57428600-57436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:57428600-57438000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:57428600-57438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:57428600-57438800	Weak transcription	Liver	Liver
28	chr15:57428600-57438800	Weak transcription	NHDF-Ad	bronchial
29	chr15:57428600-57438800	Weak transcription	NHLF	lung
30	chr15:57428600-57444000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:57428800-57436200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:57428800-57438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:57429000-57437800	Weak transcription	Brain Germinal Matrix	brain
34	chr15:57429200-57438800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr15:57430600-57435400	Weak transcription	K562	blood
36	chr15:57430600-57435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:57430600-57438800	Weak transcription	NH-A	brain
38	chr15:57430800-57435800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:57430800-57436200	Weak transcription	Brain Anterior Caudate	brain
40	chr15:57431000-57434800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:57431000-57435200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:57431000-57435400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:57431000-57436200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:57431000-57438000	Weak transcription	Brain Angular Gyrus	brain
45	chr15:57431000-57438600	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:57431000-57438600	Weak transcription	HUVEC	blood vessel
47	chr15:57431000-57438800	Weak transcription	Adipose Nuclei	Adipose
48	chr15:57431600-57438800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:57431800-57433800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:57432200-57435200	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links