Variant report

Variant	rs17159972
Chromosome Location	chr5:106778501-106778502
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	chr5:106777423..106780206-chr5:106784376..106786061,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10038224	1.00[EUR][1000 genomes]
rs10053294	1.00[EUR][1000 genomes]
rs10058412	1.00[EUR][1000 genomes]
rs10068257	1.00[EUR][1000 genomes]
rs10491389	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11956462	1.00[EUR][1000 genomes]
rs11958371	1.00[EUR][1000 genomes]
rs17159819	1.00[EUR][1000 genomes]
rs17159895	1.00[EUR][1000 genomes]
rs17159926	1.00[EUR][1000 genomes]
rs17159963	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159988	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2113035	1.00[EUR][1000 genomes]
rs6868291	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106758600-106785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:106768600-106778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:106768600-106779000	Weak transcription	HSMM	muscle
4	chr5:106772600-106779000	Weak transcription	Left Ventricle	heart
5	chr5:106772600-106790800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:106773200-106782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:106774600-106779800	Weak transcription	Brain Germinal Matrix	brain
8	chr5:106774600-106785000	Weak transcription	Fetal Lung	lung
9	chr5:106774600-106790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:106775400-106781600	Weak transcription	Aorta	Aorta
11	chr5:106775600-106781200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:106776000-106781000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:106776600-106778800	Weak transcription	A549	lung
14	chr5:106776600-106779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:106777200-106781200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:106777200-106786000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:106777400-106778600	Weak transcription	Fetal Heart	heart
18	chr5:106777400-106790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:106777600-106782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:106777800-106779000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:106777800-106783000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:106778200-106779200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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