Variant report

Variant	rs2183702
Chromosome Location	chr9:117978829-117978830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117978231..117979736-chr9:117982363..117984599,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10982595	0.81[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10982604	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10982606	0.87[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10982609	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10982614	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs10982616	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs1110169	0.86[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12379021	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12682693	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13292941	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1537732	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17244791	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1888672	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1888673	0.81[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34541555	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4147052	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4978628	0.90[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6478145	0.81[EUR][1000 genomes]
rs6478149	0.85[EUR][1000 genomes]
rs7866181	0.80[CEU][hapmap]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117967800-117979400	Weak transcription	Aorta	Aorta
2	chr9:117974200-117982400	Weak transcription	Brain Germinal Matrix	brain
3	chr9:117975400-117982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:117976200-117981400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:117976600-117979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:117976600-117979600	Weak transcription	Fetal Lung	lung
7	chr9:117976600-117980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:117976600-117982600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:117976600-117985400	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:117976600-117987400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:117976800-117980000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:117976800-117980000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:117977000-117979200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:117977000-117979400	Weak transcription	GM12878-XiMat	blood
15	chr9:117977000-117981400	Weak transcription	Fetal Stomach	stomach
16	chr9:117977000-117982200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:117977000-117982200	Weak transcription	NHEK	skin
18	chr9:117977000-117982800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:117977200-117982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:117977200-117982200	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:117977200-117982400	Weak transcription	Fetal Brain Male	brain
22	chr9:117977800-117979600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:117978800-117979600	Enhancers	Primary B cells from peripheral blood	blood

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