Variant report

Variant	rs73251382
Chromosome Location	chr5:118130674-118130675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118123238..118126072-chr5:118128175..118130708,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1019453	1.00[EUR][1000 genomes]
rs17144589	1.00[EUR][1000 genomes]
rs17144634	0.94[AFR][1000 genomes]
rs57587366	0.89[AFR][1000 genomes]
rs59610600	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59722126	1.00[EUR][1000 genomes]
rs61214571	1.00[EUR][1000 genomes]
rs6866382	1.00[EUR][1000 genomes]
rs6886099	1.00[EUR][1000 genomes]
rs73236957	1.00[EUR][1000 genomes]
rs73239078	1.00[EUR][1000 genomes]
rs73251303	1.00[EUR][1000 genomes]
rs73251305	0.86[AFR][1000 genomes]
rs73251311	1.00[EUR][1000 genomes]
rs73251312	0.83[AFR][1000 genomes]
rs73251313	1.00[EUR][1000 genomes]
rs73251327	0.94[AFR][1000 genomes]
rs73251385	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251386	0.94[AFR][1000 genomes]
rs73251389	0.94[AFR][1000 genomes]
rs73253507	1.00[EUR][1000 genomes]
rs7448288	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7722494	1.00[EUR][1000 genomes]
rs7734451	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118126600-118131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:118127400-118131200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:118127600-118143200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:118127800-118130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:118127800-118131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:118127800-118131200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:118127800-118131400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:118127800-118131400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:118127800-118131800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:118127800-118143400	Weak transcription	Psoas Muscle	Psoas
12	chr5:118128200-118131600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:118128400-118131200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:118129600-118131800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:118130400-118135800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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