Variant report

Variant	rs72718216
Chromosome Location	chr14:69455773-69455774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69366379..69368743-chr14:69454832..69457651,2	MCF-7	breast:
2	chr14:69443728..69448549-chr14:69453404..69457507,10	MCF-7	breast:
3	chr14:69381386..69384151-chr14:69454672..69457482,2	MCF-7	breast:
4	chr14:69454329..69457831-chr14:69459163..69461306,3	MCF-7	breast:
5	chr14:69442613..69444498-chr14:69453926..69457303,3	MCF-7	breast:
6	chr14:69453762..69456059-chr14:69456066..69458311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131417	0.93[EUR][1000 genomes]
rs11846999	0.93[EUR][1000 genomes]
rs11847083	0.93[EUR][1000 genomes]
rs11850741	0.91[EUR][1000 genomes]
rs17758097	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17835991	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2284906	0.93[EUR][1000 genomes]
rs58291960	0.93[EUR][1000 genomes]
rs67356344	0.93[EUR][1000 genomes]
rs7144924	0.90[EUR][1000 genomes]
rs72718210	0.91[EUR][1000 genomes]
rs72718212	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72718217	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs730635	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
2	chr14:69449200-69458400	Weak transcription	HUVEC	blood vessel
3	chr14:69453200-69456400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:69453400-69460600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:69454400-69455800	Enhancers	HepG2	liver
6	chr14:69454400-69456000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:69454400-69456000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:69454400-69456200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:69454400-69456400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:69454600-69455800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:69454600-69456000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:69454800-69455800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:69454800-69456200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:69454800-69456200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:69454800-69457400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:69454800-69461200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:69455000-69456000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:69455400-69456200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:69455400-69456400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:69455400-69456600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:69455600-69455800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:69455600-69465200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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