Variant report

Variant	rs11158552
Chromosome Location	chr14:65121290-65121291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64968793..64973673-chr14:65119564..65122078,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10130241	1.00[CHB][hapmap]
rs7145207	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7154142	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73271639	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73271657	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056372	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010807	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013821	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1008915	chr14:65117194-65126733	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11158552	RAB15	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65116800-65125000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:65117000-65128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:65120200-65122200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:65120400-65121800	Enhancers	HSMMtube	muscle
5	chr14:65120400-65122000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:65120400-65122000	Enhancers	HSMM	muscle
7	chr14:65120400-65122000	Enhancers	NHLF	lung
8	chr14:65120400-65122200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:65120400-65122200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:65120400-65122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:65120400-65122200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:65120400-65122200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:65120400-65122200	Enhancers	Fetal Muscle Leg	muscle
14	chr14:65120400-65122600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:65120600-65121400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:65120600-65121600	Enhancers	GM12878-XiMat	blood
17	chr14:65120600-65121600	Enhancers	NHEK	skin
18	chr14:65120600-65121800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65120600-65121800	Enhancers	HMEC	breast
20	chr14:65120600-65121800	Enhancers	HUVEC	blood vessel
21	chr14:65120600-65122000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:65120600-65122000	Enhancers	Primary hematopoietic stem cells	blood
23	chr14:65120600-65122000	Enhancers	NH-A	brain
24	chr14:65120600-65122200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:65120600-65122200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:65120600-65122200	Enhancers	Adipose Nuclei	Adipose
27	chr14:65120600-65122200	Enhancers	Liver	Liver
28	chr14:65120600-65122200	Enhancers	Colon Smooth Muscle	Colon
29	chr14:65120600-65122200	Enhancers	Placenta	Placenta
30	chr14:65120600-65122200	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:65120600-65122200	Enhancers	Right Ventricle	heart
32	chr14:65120800-65121400	Enhancers	Small Intestine	intestine
33	chr14:65120800-65121400	Flanking Active TSS	A549	lung
34	chr14:65120800-65121600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:65120800-65121800	Weak transcription	Right Atrium	heart
36	chr14:65120800-65122200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr14:65121000-65121400	Enhancers	Hela-S3	cervix
38	chr14:65121000-65121400	Flanking Active TSS	Osteobl	bone
39	chr14:65121000-65121600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr14:65121000-65121800	Flanking Active TSS	HepG2	liver
41	chr14:65121000-65122000	Enhancers	Fetal Heart	heart
42	chr14:65121000-65122000	Enhancers	Fetal Intestine Small	intestine
43	chr14:65121000-65122000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr14:65121000-65122200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:65121000-65122200	Enhancers	Fetal Stomach	stomach
46	chr14:65121000-65122200	Enhancers	Stomach Mucosa	stomach
47	chr14:65121000-65122200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:65121200-65121400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr14:65121200-65121400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr14:65121200-65121600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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