Variant report

Variant	rs8039240
Chromosome Location	chr15:42817577-42817578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:42817576-42817622	HepG2	liver:	n/a	chr15:42817588-42817599 chr15:42817584-42817599 chr15:42817587-42817601 chr15:42817588-42817599
2	MAFK	chr15:42817455-42817619	HepG2	liver:	n/a	chr15:42817588-42817599 chr15:42817584-42817599 chr15:42817587-42817601 chr15:42817588-42817599

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42817015..42818748-chr15:42821725..42824500,2	K562	blood:

Variant related genes	Relation type
SNAP23	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10454692	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1048571	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11070375	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11630625	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11630681	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11633112	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11635041	0.89[EUR][1000 genomes]
rs11635076	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11635889	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11636209	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438021	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12439377	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12440506	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17709596	0.85[EUR][1000 genomes]
rs17709867	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17766258	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767264	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17767270	0.81[EUR][1000 genomes]
rs2595938	0.81[EUR][1000 genomes]
rs41315252	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56069741	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56172155	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62019280	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019282	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019285	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019287	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019294	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019312	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019315	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019320	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62019322	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62022315	0.81[EUR][1000 genomes]
rs62022316	0.85[EUR][1000 genomes]
rs62022318	0.86[EUR][1000 genomes]
rs7182376	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72711767	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8042618	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv2761870	chr15:42815733-42821267	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8039240	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42790800-42821400	Weak transcription	Right Ventricle	heart
2	chr15:42793000-42835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:42793800-42837200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:42797400-42839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:42797600-42822200	Weak transcription	Small Intestine	intestine
6	chr15:42797600-42839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:42799200-42839400	Weak transcription	Stomach Mucosa	stomach
8	chr15:42802400-42839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:42803200-42837200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:42803600-42839400	Weak transcription	A549	lung
11	chr15:42803800-42817600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:42804000-42826800	Strong transcription	HUVEC	blood vessel
13	chr15:42804600-42836400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:42804800-42818000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:42804800-42818000	Strong transcription	Fetal Intestine Large	intestine
16	chr15:42804800-42825400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:42804800-42828800	Strong transcription	Placenta	Placenta
18	chr15:42804800-42836400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr15:42804800-42836400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:42805000-42818400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr15:42805000-42818800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:42805000-42818800	Strong transcription	NH-A	brain
23	chr15:42805200-42817600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:42805200-42825800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:42805400-42836800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:42805600-42818400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:42805600-42818800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:42806200-42836400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:42806200-42839000	Weak transcription	Fetal Brain Male	brain
30	chr15:42807600-42821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:42808200-42820400	Weak transcription	Brain Angular Gyrus	brain
32	chr15:42808200-42824800	Weak transcription	Hela-S3	cervix
33	chr15:42808400-42820000	Weak transcription	K562	blood
34	chr15:42808400-42821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr15:42808400-42822000	Weak transcription	HMEC	breast
36	chr15:42808400-42839000	Weak transcription	Fetal Heart	heart
37	chr15:42808800-42821000	Weak transcription	Aorta	Aorta
38	chr15:42808800-42836000	Weak transcription	Esophagus	oesophagus
39	chr15:42810200-42831000	Weak transcription	Gastric	stomach
40	chr15:42810200-42840200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:42810400-42820400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:42810400-42821400	Weak transcription	Psoas Muscle	Psoas
43	chr15:42810400-42821800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:42810600-42821400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:42810600-42822000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:42810600-42822400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:42810800-42823400	Weak transcription	Ovary	ovary
48	chr15:42811000-42821400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:42811000-42821800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:42811000-42837600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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