Variant report

Variant	rs62019322
Chromosome Location	chr15:42897374-42897375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42896121..42899358-chr15:42903521..42907141,3	K562	blood:
2	chr15:42890368..42894059-chr15:42896561..42900467,4	K562	blood:
3	chr15:42890368..42893140-chr15:42896561..42898138,2	K562	blood:
4	chr15:42896121..42899358-chr15:42902188..42907141,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10454692	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1048571	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11070375	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11630625	0.89[AMR][1000 genomes]
rs11630681	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11633112	0.87[AMR][1000 genomes]
rs11635076	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11635889	0.92[AMR][1000 genomes]
rs11636209	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12438021	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12439377	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12440506	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12910538	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12914539	0.87[EUR][1000 genomes]
rs17709867	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17766258	0.87[AMR][1000 genomes]
rs17767264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17767270	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41315252	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56069741	0.87[AMR][1000 genomes]
rs56172155	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019280	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62019282	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62019285	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62019287	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62019294	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62019312	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62019315	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62019320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182376	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72711767	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8039240	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8042618	0.92[AMR][1000 genomes];0.83[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
rs62019322	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42874400-42900200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:42874400-42900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:42874400-42900200	Weak transcription	Lung	lung
4	chr15:42874800-42929800	Weak transcription	Fetal Brain Female	brain
5	chr15:42876800-42900200	Weak transcription	HMEC	breast
6	chr15:42877000-42900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:42877200-42911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:42879800-42898200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:42886600-42897600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:42887600-42897800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:42888000-42897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:42888400-42897400	Weak transcription	Aorta	Aorta
13	chr15:42888600-42897800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:42888600-42901200	Weak transcription	Fetal Brain Male	brain
15	chr15:42888800-42901000	Weak transcription	Brain Angular Gyrus	brain
16	chr15:42888800-42909600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:42888800-42911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:42889600-42897600	Weak transcription	Fetal Kidney	kidney
19	chr15:42889600-42903600	Weak transcription	Ovary	ovary
20	chr15:42894400-42897400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:42895000-42911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:42895200-42897400	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:42895200-42898600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:42895200-42900000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr15:42895200-42914200	Weak transcription	HepG2	liver
26	chr15:42895200-42920800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:42895800-42897600	Enhancers	Thymus	Thymus
28	chr15:42896000-42897400	Weak transcription	NH-A	brain
29	chr15:42896200-42897400	Enhancers	Primary T cells from cord blood	blood
30	chr15:42896200-42897600	Enhancers	Adipose Nuclei	Adipose
31	chr15:42896200-42898800	Enhancers	Fetal Stomach	stomach
32	chr15:42896200-42901600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr15:42896400-42897400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:42896400-42897400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr15:42896400-42897600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr15:42896400-42901600	Enhancers	Fetal Heart	heart
37	chr15:42896600-42898800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr15:42896600-42898800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr15:42896800-42897400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr15:42896800-42898000	Enhancers	Fetal Muscle Leg	muscle
41	chr15:42896800-42898600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:42896800-42898600	Enhancers	Rectal Smooth Muscle	rectum
43	chr15:42896800-42901800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr15:42896800-42902000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:42897000-42897400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:42897000-42897800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr15:42897000-42898000	Enhancers	Placenta	Placenta
48	chr15:42897000-42898000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr15:42897000-42898000	Enhancers	Spleen	Spleen
50	chr15:42897000-42898000	Enhancers	NHLF	lung

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