Variant report

Variant	rs62022313
Chromosome Location	chr15:42749476-42749477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11638666	0.90[EUR][1000 genomes]
rs12439003	1.00[AFR][1000 genomes]
rs12440118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17709596	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17709867	0.80[EUR][1000 genomes]
rs2595938	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60569090	0.87[EUR][1000 genomes]
rs61115119	0.86[EUR][1000 genomes]
rs62022308	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62022310	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62022314	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62022315	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62022316	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62022318	0.82[AMR][1000 genomes]
rs72707484	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8027283	0.80[EUR][1000 genomes]
rs8036544	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62022313	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr15:42720400-42759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:42737200-42764800	Weak transcription	A549	lung
6	chr15:42743200-42750200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:42744000-42757400	Weak transcription	Gastric	stomach
8	chr15:42744000-42757600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:42744200-42749600	Weak transcription	Fetal Brain Female	brain
10	chr15:42744200-42749800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:42744200-42749800	Weak transcription	Thymus	Thymus
12	chr15:42744200-42750400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:42744200-42753400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:42744200-42754000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:42744200-42754200	Weak transcription	Small Intestine	intestine
16	chr15:42744200-42755000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:42744200-42755200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:42744200-42755200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:42744200-42755600	Weak transcription	Spleen	Spleen
20	chr15:42744200-42756800	Weak transcription	Dnd41	blood
21	chr15:42744200-42757000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:42744200-42757400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:42744200-42757400	Weak transcription	HepG2	liver
24	chr15:42744200-42757600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:42744200-42762200	Weak transcription	K562	blood
26	chr15:42744200-42763200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:42744200-42767000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:42744200-42781800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:42744200-42782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:42745600-42749600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:42745800-42749800	Weak transcription	HMEC	breast
32	chr15:42745800-42750000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:42745800-42750000	Weak transcription	Fetal Brain Male	brain
34	chr15:42746200-42753800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:42746600-42749600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:42746800-42750200	Active TSS	Right Ventricle	heart
37	chr15:42746800-42755600	Weak transcription	Hela-S3	cervix
38	chr15:42747000-42749600	Active TSS	HSMMtube	muscle
39	chr15:42747000-42749800	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr15:42747200-42749600	Active TSS	Fetal Muscle Trunk	muscle
41	chr15:42747200-42749600	Weak transcription	NHEK	skin
42	chr15:42747200-42749800	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr15:42747200-42750200	Weak transcription	Primary B cells from cord blood	blood
44	chr15:42747200-42750200	Weak transcription	Fetal Intestine Large	intestine
45	chr15:42747200-42750200	Active TSS	Right Atrium	heart
46	chr15:42747200-42750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:42747200-42753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:42747200-42755000	Weak transcription	Fetal Intestine Small	intestine
49	chr15:42747200-42755200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:42747400-42750000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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