Variant report

Variant	rs62019312
Chromosome Location	chr15:42851397-42851398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10454692	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1048571	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070375	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11630625	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11630681	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633112	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635041	0.87[EUR][1000 genomes]
rs11635076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11635889	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11636209	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12438021	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439377	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440506	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12910538	0.84[AMR][1000 genomes]
rs17709596	0.83[EUR][1000 genomes]
rs17709867	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17766258	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17767264	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17767270	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41315252	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56069741	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56172155	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62019280	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019282	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019287	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019315	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019320	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62019322	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62022316	0.83[EUR][1000 genomes]
rs62022318	0.84[EUR][1000 genomes]
rs7182376	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72711767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039240	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8042618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs62019312	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	chr15:42841600-42851600	Weak transcription	Lung	lung
2	chr15:42841600-42852000	Weak transcription	Gastric	stomach
3	chr15:42841600-42853600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:42841600-42854200	Weak transcription	Aorta	Aorta
5	chr15:42841600-42854200	Weak transcription	Esophagus	oesophagus
6	chr15:42841600-42854200	Weak transcription	Spleen	Spleen
7	chr15:42841600-42866800	Weak transcription	Stomach Mucosa	stomach
8	chr15:42841800-42857000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:42841800-42867000	Weak transcription	Ovary	ovary
10	chr15:42842200-42851400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:42842200-42853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:42842200-42854200	Weak transcription	Right Ventricle	heart
13	chr15:42842200-42856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:42842200-42867000	Weak transcription	Psoas Muscle	Psoas
15	chr15:42842400-42851400	Weak transcription	Placenta	Placenta
16	chr15:42842400-42851400	Weak transcription	Left Ventricle	heart
17	chr15:42842400-42851400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:42842400-42851400	Weak transcription	HSMMtube	muscle
19	chr15:42842400-42851600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:42842400-42851600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:42842400-42851600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:42842400-42851600	Weak transcription	NH-A	brain
23	chr15:42842400-42852000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:42842400-42853400	Weak transcription	HSMM	muscle
25	chr15:42842400-42854600	Weak transcription	A549	lung
26	chr15:42842400-42867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:42842600-42851400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:42842600-42851400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:42842600-42851600	Weak transcription	Colonic Mucosa	Colon
30	chr15:42842600-42851600	Weak transcription	Fetal Brain Male	brain
31	chr15:42842600-42851600	Weak transcription	NHDF-Ad	bronchial
32	chr15:42842600-42852000	Weak transcription	Fetal Lung	lung
33	chr15:42842600-42853000	Weak transcription	NHLF	lung
34	chr15:42842600-42855800	Weak transcription	Brain Anterior Caudate	brain
35	chr15:42842600-42867400	Weak transcription	Small Intestine	intestine
36	chr15:42842800-42851600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:42842800-42851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:42842800-42851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:42842800-42851600	Weak transcription	Osteobl	bone
40	chr15:42842800-42851800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:42842800-42851800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:42842800-42851800	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:42842800-42853400	Weak transcription	Brain Angular Gyrus	brain
44	chr15:42842800-42853400	Weak transcription	Fetal Brain Female	brain
45	chr15:42842800-42853600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr15:42842800-42854200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:42842800-42854200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:42842800-42857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:42842800-42857400	Weak transcription	Brain Substantia Nigra	brain
50	chr15:42842800-42867000	Weak transcription	Fetal Kidney	kidney

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