Variant report

Variant	rs12109988
Chromosome Location	chr5:93261346-93261347
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	chr5:93259705..93262376-chr5:93294800..93297613,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10053405	0.82[YRI][hapmap]
rs10054903	0.82[YRI][hapmap]
rs10055340	0.82[YRI][hapmap]
rs10064368	0.82[YRI][hapmap]
rs10078941	0.82[YRI][hapmap]
rs10079708	0.82[YRI][hapmap]
rs12108870	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12109217	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7734897	0.82[YRI][hapmap]
rs7736620	0.82[YRI][hapmap]
rs9942403	0.90[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][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	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028893	chr5:93213264-93276883	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1020849	chr5:93228065-93279216	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1030870	chr5:93242611-93282996	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:93250000-93262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:93250200-93273800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:93252200-93284400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:93253200-93263200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:93257000-93270200	Weak transcription	Primary T cells from cord blood	blood
9	chr5:93257200-93287400	Weak transcription	Primary B cells from cord blood	blood
10	chr5:93259800-93263200	Enhancers	NHEK	skin
11	chr5:93260000-93261400	Enhancers	HSMM	muscle
12	chr5:93260000-93261800	Enhancers	HMEC	breast
13	chr5:93260000-93263200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:93260000-93263400	Enhancers	HSMMtube	muscle
15	chr5:93260200-93261600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:93260400-93261400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:93260400-93261400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:93260800-93261800	Enhancers	HUVEC	blood vessel
19	chr5:93261000-93261600	Enhancers	NHDF-Ad	bronchial
20	chr5:93261000-93262200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:93261200-93261400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:93261200-93261400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:93261200-93261400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:93261200-93261400	Enhancers	Osteobl	bone
25	chr5:93261200-93262200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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