Variant report

Variant	rs8042618
Chromosome Location	chr15:42835599-42835600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42835030..42836618-chr15:42846548..42848081,2	K562	blood:

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

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

rs_ID	r²[population]
rs10454692	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1048571	1.00[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	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11630681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633112	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635041	0.87[EUR][1000 genomes]
rs11635076	0.95[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	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12438021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439377	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440506	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56069741	1.00[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	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019282	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019312	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019315	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039240	0.92[AMR][1000 genomes];0.98[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
rs8042618	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42793000-42835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:42793800-42837200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:42797400-42839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:42797600-42839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:42799200-42839400	Weak transcription	Stomach Mucosa	stomach
6	chr15:42802400-42839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:42803200-42837200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:42803600-42839400	Weak transcription	A549	lung
9	chr15:42804600-42836400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:42804800-42836400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:42804800-42836400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:42805400-42836800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:42806200-42836400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:42806200-42839000	Weak transcription	Fetal Brain Male	brain
15	chr15:42808400-42839000	Weak transcription	Fetal Heart	heart
16	chr15:42808800-42836000	Weak transcription	Esophagus	oesophagus
17	chr15:42810200-42840200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:42811000-42837600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:42811800-42836000	Weak transcription	Colonic Mucosa	Colon
20	chr15:42817400-42840200	Weak transcription	Pancreas	Pancrea
21	chr15:42821200-42836200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:42821200-42839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:42822200-42840200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:42822800-42840000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:42823000-42835600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:42823400-42840200	Weak transcription	Psoas Muscle	Psoas
27	chr15:42823800-42835600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:42823800-42835600	Weak transcription	NHLF	lung
29	chr15:42823800-42838000	Weak transcription	Brain Angular Gyrus	brain
30	chr15:42824000-42840200	Weak transcription	Small Intestine	intestine
31	chr15:42824200-42835800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:42824200-42835800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:42824200-42835800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:42824400-42839400	Weak transcription	Brain Substantia Nigra	brain
35	chr15:42824600-42835600	Weak transcription	Osteobl	bone
36	chr15:42824600-42836000	Weak transcription	Ovary	ovary
37	chr15:42824600-42836600	Weak transcription	Aorta	Aorta
38	chr15:42824600-42838400	Weak transcription	HepG2	liver
39	chr15:42824600-42839600	Weak transcription	Right Ventricle	heart
40	chr15:42825000-42835600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:42825600-42835800	Weak transcription	NH-A	brain
42	chr15:42825800-42835600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:42825800-42835600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:42825800-42835800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:42825800-42837200	Weak transcription	HMEC	breast
46	chr15:42826000-42836400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:42826000-42837000	Weak transcription	Fetal Kidney	kidney
48	chr15:42827000-42837400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr15:42827600-42837200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:42828800-42835800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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