Variant report

Variant	rs8000807
Chromosome Location	chr13:48989645-48989646
allele	C/T
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	FOSL2	chr13:48989608-48990025	A549	lung:	n/a	n/a

Variant related genes	Relation type
LPAR6	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs3092863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7320277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7327171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7329387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7333971	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7982457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331979	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331993	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332001	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332059	1.00[AFR][1000 genomes]
rs9332073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332306	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
2	chr13:48978400-48989800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr13:48978800-48990400	Weak transcription	Spleen	Spleen
4	chr13:48986600-48990200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:48986600-48990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:48986600-48990400	Weak transcription	Brain Germinal Matrix	brain
7	chr13:48986600-48990400	Weak transcription	Gastric	stomach
8	chr13:48986600-48990400	Weak transcription	Pancreas	Pancrea
9	chr13:48986800-48990200	Weak transcription	Lung	lung
10	chr13:48987000-48990400	Weak transcription	Fetal Brain Female	brain
11	chr13:48987000-48992800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:48987200-48990000	Weak transcription	Placenta	Placenta
13	chr13:48987200-48990200	Weak transcription	Small Intestine	intestine
14	chr13:48987200-48990400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:48987200-48993200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:48987400-48989800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:48987400-48990200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:48987400-48990200	Weak transcription	Fetal Stomach	stomach
19	chr13:48987400-48990200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:48987400-48990400	Weak transcription	Left Ventricle	heart
21	chr13:48987400-48990600	Weak transcription	Right Ventricle	heart
22	chr13:48987400-48991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:48987400-48991200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:48987600-48989800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:48987600-48989800	Weak transcription	Primary B cells from cord blood	blood
26	chr13:48987600-48990000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:48987600-48990200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:48987600-48990200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr13:48987600-48990200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr13:48987600-48990200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:48987600-48990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:48987600-48990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:48987600-48990200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:48987600-48990200	Weak transcription	Esophagus	oesophagus
35	chr13:48987600-48990200	Weak transcription	Fetal Thymus	thymus
36	chr13:48987600-48990200	Weak transcription	Thymus	Thymus
37	chr13:48987600-48990400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:48987600-48990400	Weak transcription	Liver	Liver
39	chr13:48987600-48990400	Weak transcription	Ovary	ovary
40	chr13:48987600-48990600	Weak transcription	NHLF	lung
41	chr13:48987600-48991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:48987600-48991200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr13:48987600-48991200	Weak transcription	HSMMtube	muscle
44	chr13:48987600-48991400	Weak transcription	Fetal Muscle Leg	muscle
45	chr13:48987600-48992800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:48987600-48993400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:48987600-48994800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:48987600-48995200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr13:48987600-49001800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr13:48987600-49005600	Weak transcription	Brain Hippocampus Middle	brain

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