Variant report

Variant	rs12914539
Chromosome Location	chr15:42910624-42910625
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42909142..42911045-chr15:42944197..42946525,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11070375	0.82[EUR][1000 genomes]
rs12910538	0.91[EUR][1000 genomes]
rs17767264	0.84[EUR][1000 genomes]
rs17767270	1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56172155	0.84[EUR][1000 genomes]
rs62019320	0.87[EUR][1000 genomes]
rs62019322	0.87[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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12914539	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42874800-42929800	Weak transcription	Fetal Brain Female	brain
2	chr15:42877200-42911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:42888800-42911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:42895000-42911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:42895200-42914200	Weak transcription	HepG2	liver
6	chr15:42895200-42920800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:42897800-42914600	Weak transcription	Brain Germinal Matrix	brain
8	chr15:42897800-42930200	Weak transcription	HSMM	muscle
9	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
10	chr15:42898400-42932800	Weak transcription	Esophagus	oesophagus
11	chr15:42898600-42929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:42900600-42928000	Weak transcription	Placenta	Placenta
13	chr15:42900600-42930000	Weak transcription	HMEC	breast
14	chr15:42900800-42914600	Weak transcription	HUVEC	blood vessel
15	chr15:42900800-42929800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:42901000-42921200	Weak transcription	NHDF-Ad	bronchial
17	chr15:42901000-42927800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:42901400-42911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:42901400-42928400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:42901400-42929800	Weak transcription	Brain Angular Gyrus	brain
21	chr15:42901600-42927800	Weak transcription	Adipose Nuclei	Adipose
22	chr15:42901600-42930000	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:42901600-42930400	Weak transcription	Primary B cells from cord blood	blood
24	chr15:42902000-42912000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:42902200-42913000	Weak transcription	Lung	lung
26	chr15:42903200-42931000	Weak transcription	Fetal Intestine Large	intestine
27	chr15:42904000-42930200	Weak transcription	Right Ventricle	heart
28	chr15:42904200-42929800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:42904400-42921200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:42904600-42930200	Weak transcription	Aorta	Aorta
31	chr15:42904800-42911800	Weak transcription	GM12878-XiMat	blood
32	chr15:42906600-42911200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:42907400-42911400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:42908600-42911400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:42908600-42914200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:42908800-42915600	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
38	chr15:42909000-42911000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:42909600-42913200	Strong transcription	Fetal Stomach	stomach
40	chr15:42909600-42966400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:42909800-42910800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:42909800-42912600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr15:42910000-42911000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:42910200-42914600	Weak transcription	Ovary	ovary
45	chr15:42910200-42916200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:42910200-42927800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:42910200-42929800	Weak transcription	Fetal Heart	heart
48	chr15:42910400-42911000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:42910400-42911200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:42910400-42911800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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