Variant report

Variant	rs13292941
Chromosome Location	chr9:117977063-117977064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10982595	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10982604	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10982606	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982609	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1110169	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12379021	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12682693	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1537732	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17244791	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888672	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888673	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2183702	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34541555	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4147052	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4978628	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6478145	0.82[EUR][1000 genomes]
rs6478149	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7860900	0.81[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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117963000-117977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:117967800-117979400	Weak transcription	Aorta	Aorta
3	chr9:117973800-117977800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:117974200-117982400	Weak transcription	Brain Germinal Matrix	brain
5	chr9:117975400-117982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:117975800-117978800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:117976000-117977200	Enhancers	Fetal Brain Male	brain
8	chr9:117976000-117977200	Enhancers	Fetal Muscle Leg	muscle
9	chr9:117976000-117977800	Weak transcription	Fetal Kidney	kidney
10	chr9:117976200-117981400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:117976400-117977200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:117976600-117979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:117976600-117979600	Weak transcription	Fetal Lung	lung
14	chr9:117976600-117980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:117976600-117982600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:117976600-117985400	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:117976600-117987400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:117976800-117980000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:117976800-117980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:117977000-117977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:117977000-117979200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:117977000-117979400	Weak transcription	GM12878-XiMat	blood
23	chr9:117977000-117981400	Weak transcription	Fetal Stomach	stomach
24	chr9:117977000-117982200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:117977000-117982200	Weak transcription	NHEK	skin
26	chr9:117977000-117982800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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