Variant report

Variant	rs12457215
Chromosome Location	chr18:45529243-45529244
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	chr18:45522234..45524645-chr18:45528573..45530359,2	MCF-7	breast:
2	chr18:45528601..45531772-chr18:45533301..45535605,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12455734	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6507796	0.82[EUR][1000 genomes]
rs7236709	0.82[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs8084362	0.81[ASN][1000 genomes]
rs8086860	0.90[ASN][1000 genomes]
rs9965294	0.85[CEU][hapmap];0.81[JPT][hapmap]

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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 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	chr18:45520400-45529600	Weak transcription	Stomach Mucosa	stomach
2	chr18:45525200-45531200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr18:45527200-45530200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr18:45527200-45530800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr18:45527400-45529800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:45527400-45529800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:45527400-45530000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr18:45528400-45529600	Enhancers	A549	lung
9	chr18:45528400-45531200	Enhancers	Placenta	Placenta
10	chr18:45528600-45531400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr18:45528800-45529800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:45528800-45530000	Weak transcription	Fetal Kidney	kidney
13	chr18:45528800-45530600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:45528800-45530800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr18:45528800-45531200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:45529000-45529800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:45529000-45530000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr18:45529000-45530400	Enhancers	Fetal Heart	heart
19	chr18:45529000-45530600	Enhancers	Left Ventricle	heart
20	chr18:45529000-45530600	Enhancers	Lung	lung
21	chr18:45529000-45530800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:45529000-45530800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr18:45529000-45530800	Enhancers	Right Ventricle	heart
24	chr18:45529000-45531000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:45529000-45531000	Enhancers	NHEK	skin
26	chr18:45529000-45531200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr18:45529000-45531200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:45529000-45531200	Enhancers	Fetal Muscle Leg	muscle
29	chr18:45529000-45531200	Enhancers	HUVEC	blood vessel
30	chr18:45529000-45531400	Enhancers	Dnd41	blood
31	chr18:45529200-45529400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr18:45529200-45529400	Flanking Active TSS	Hela-S3	cervix
33	chr18:45529200-45529600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:45529200-45529800	Weak transcription	Spleen	Spleen
35	chr18:45529200-45530600	Enhancers	Adipose Nuclei	Adipose
36	chr18:45529200-45530600	Enhancers	Colonic Mucosa	Colon
37	chr18:45529200-45530800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:45529200-45530800	Enhancers	Fetal Muscle Trunk	muscle
39	chr18:45529200-45530800	Enhancers	Pancreas	Pancrea
40	chr18:45529200-45531000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr18:45529200-45531000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:45529200-45531000	Enhancers	HSMMtube	muscle
43	chr18:45529200-45531200	Enhancers	Right Atrium	heart
44	chr18:45529200-45531200	Enhancers	HSMM	muscle
45	chr18:45529200-45531400	Enhancers	Fetal Thymus	thymus
46	chr18:45529200-45531400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links