Variant report

Variant	rs73380909
Chromosome Location	chr5:166997820-166997821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr5:166997378-166997829	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOS	chr5:166997802-166998450	MCF10A-Er-Src	breast:	n/a	n/a
3	TEAD4	chr5:166997382-166997849	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TENM2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12655922	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17068781	0.94[ASN][1000 genomes]
rs17068792	0.90[ASN][1000 genomes]
rs17068796	0.94[ASN][1000 genomes]
rs17068862	0.90[ASN][1000 genomes]
rs278011	0.94[ASN][1000 genomes]
rs278015	0.94[ASN][1000 genomes]
rs58310152	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59355279	0.88[ASN][1000 genomes]
rs59726875	0.88[ASN][1000 genomes]
rs60290329	0.90[ASN][1000 genomes]
rs61216313	0.88[ASN][1000 genomes]
rs6859433	0.88[ASN][1000 genomes]
rs73378980	1.00[AMR][1000 genomes]
rs73380910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73380913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73380917	0.86[ASN][1000 genomes]
rs73381002	0.90[ASN][1000 genomes]
rs73803911	0.88[ASN][1000 genomes]
rs875705	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv883104	chr5:166971457-167037934	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166989200-166998200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:166996200-167000000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:166996800-166999800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:166997000-166998600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:166997000-166999800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:166997000-167000200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:166997000-167000200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:166997000-167000200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:166997000-167000200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:166997000-167000400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:166997200-166999800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:166997200-167000000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:166997200-167000000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:166997200-167000200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:166997200-167000800	Weak transcription	Aorta	Aorta
16	chr5:166997400-166998000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:166997400-166998000	Enhancers	HSMMtube	muscle
18	chr5:166997400-167000200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:166997400-167000200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:166997600-166999800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:166997800-166998000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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