Variant report

Variant	rs229616
Chromosome Location	chr14:65293556-65293557
allele	A/G
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	CEBPB	chr14:65293534-65293838	Hela-S3	cervix:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
2	CEBPB	chr14:65293530-65293866	HepG2	liver:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
3	CEBPB	chr14:65293535-65293871	IMR90	lung:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
4	CEBPB	chr14:65293497-65293887	HepG2	liver:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
5	MYC	chr14:65293488-65294001	NB4	blood:	n/a	n/a
6	MAX	chr14:65293449-65293920	NB4	blood:	n/a	n/a
7	CEBPB	chr14:65293526-65293856	A549	lung:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693

No.	Distal block	Cell Line	Cell type
1	chr14:65292806..65294669-chr14:65341697..65343912,2	K562	blood:
2	chr14:65293069..65296062-chr14:65321540..65323696,2	K562	blood:
3	chr14:65290998..65293836-chr14:65307900..65310163,2	K562	blood:
4	chr14:65228221..65230600-chr14:65293367..65295100,2	MCF-7	breast:
5	chr14:65291589..65293730-chr14:65297377..65299857,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs114813	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587537	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1273204	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1695751	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016522	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs229609	0.90[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229611	0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229618	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229619	0.90[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229667	1.00[JPT][hapmap]
rs2649196	0.90[CHB][hapmap];0.91[EUR][1000 genomes]
rs28495181	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4027216	1.00[CHB][hapmap]
rs423927	0.90[CHB][hapmap]
rs438035	0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.92[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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs229616	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs229616	CHURC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65289600-65293600	Enhancers	Fetal Heart	heart
2	chr14:65289800-65295200	Enhancers	Left Ventricle	heart
3	chr14:65290000-65295200	Enhancers	Psoas Muscle	Psoas
4	chr14:65290600-65294400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:65291000-65295600	Enhancers	Fetal Muscle Leg	muscle
6	chr14:65291600-65296000	Enhancers	K562	blood
7	chr14:65292000-65297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:65292400-65294800	Enhancers	Fetal Muscle Trunk	muscle
9	chr14:65292600-65293800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr14:65292600-65297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:65292800-65294000	Enhancers	Right Atrium	heart
12	chr14:65292800-65294000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr14:65292800-65294000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr14:65292800-65295000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:65293000-65294800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:65293000-65294800	Weak transcription	Right Ventricle	heart
17	chr14:65293200-65293600	Enhancers	Primary B cells from cord blood	blood
18	chr14:65293200-65293600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:65293200-65293600	Bivalent Enhancer	Osteobl	bone
20	chr14:65293400-65293600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:65293400-65293600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:65293400-65293600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:65293400-65293600	Flanking Active TSS	HSMMtube	muscle
24	chr14:65293400-65293800	Enhancers	Spleen	Spleen

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