Variant report

Variant	rs6493053
Chromosome Location	chr15:42886074-42886075
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	chr15:42885080..42886874-chr15:42900852..42903433,2	K562	blood:
2	chr15:42876086..42877947-chr15:42884244..42887556,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11631193	0.81[AMR][1000 genomes]
rs11632169	0.81[ASN][1000 genomes]
rs1197546	0.81[ASN][1000 genomes]
rs1197547	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1211642	0.83[ASN][1000 genomes]
rs12903416	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1667493	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1705360	0.85[ASN][1000 genomes]
rs1814518	0.82[ASN][1000 genomes]
rs2241998	0.82[AMR][1000 genomes]
rs4447398	0.81[ASN][1000 genomes]
rs6493054	0.86[ASN][1000 genomes]
rs7168835	0.87[AMR][1000 genomes]
rs876992	0.81[ASN][1000 genomes]
rs9783683	0.84[AMR][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
rs6493053	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
2	chr15:42874200-42894400	Weak transcription	A549	lung
3	chr15:42874200-42896600	Weak transcription	Hela-S3	cervix
4	chr15:42874400-42886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:42874400-42887000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr15:42874400-42887000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:42874400-42887200	Weak transcription	Placenta	Placenta
8	chr15:42874400-42887800	Weak transcription	HSMMtube	muscle
9	chr15:42874400-42895800	Weak transcription	Thymus	Thymus
10	chr15:42874400-42900200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:42874400-42900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:42874400-42900200	Weak transcription	Lung	lung
13	chr15:42874600-42888200	Weak transcription	Colonic Mucosa	Colon
14	chr15:42874600-42896200	Weak transcription	Primary T cells from cord blood	blood
15	chr15:42874800-42929800	Weak transcription	Fetal Brain Female	brain
16	chr15:42876000-42888400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:42876800-42887200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:42876800-42887400	Weak transcription	Aorta	Aorta
19	chr15:42876800-42900200	Weak transcription	HMEC	breast
20	chr15:42877000-42886800	Weak transcription	Right Atrium	heart
21	chr15:42877000-42887000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:42877000-42887400	Weak transcription	Fetal Kidney	kidney
23	chr15:42877000-42887400	Weak transcription	NH-A	brain
24	chr15:42877000-42888200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:42877000-42890200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:42877000-42896000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:42877000-42897000	Weak transcription	Right Ventricle	heart
28	chr15:42877000-42900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:42877200-42887800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:42877200-42888200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:42877200-42911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:42878400-42894200	Weak transcription	GM12878-XiMat	blood
33	chr15:42878800-42887000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:42878800-42888200	Weak transcription	HSMM	muscle
35	chr15:42878800-42894200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:42879000-42892000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:42879800-42886200	Weak transcription	Brain Germinal Matrix	brain
38	chr15:42879800-42898200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:42880800-42887800	Weak transcription	Psoas Muscle	Psoas
40	chr15:42880800-42896800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:42881000-42887400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:42881000-42896800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:42881400-42887000	Weak transcription	K562	blood
44	chr15:42881600-42886200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:42882800-42886400	Weak transcription	Primary B cells from cord blood	blood
46	chr15:42882800-42891600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:42883200-42887600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr15:42883200-42897000	Weak transcription	Left Ventricle	heart
49	chr15:42883200-42897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:42883800-42887000	Weak transcription	Brain Hippocampus Middle	brain

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