Variant report

Variant	rs348953
Chromosome Location	chr5:112821772-112821773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112815129..112817278-chr5:112821546..112824225,2	MCF-7	breast:
2	chr5:112817510..112822037-chr5:112849495..112852801,4	MCF-7	breast:
3	chr5:112819169..112822042-chr5:112827227..112829109,2	MCF-7	breast:
4	chr5:112811062..112815504-chr5:112818708..112822151,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047188	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10071966	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1035408	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12659978	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1517208	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1517210	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs154039	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs154040	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1593953	0.90[AMR][1000 genomes]
rs164251	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs164253	0.91[AMR][1000 genomes]
rs171181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs173903	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1820056	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs182987	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1845290	0.83[EUR][1000 genomes]
rs190453	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2416282	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2431548	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2434664	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2434665	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs255856	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs255858	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs255863	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs255867	0.81[EUR][1000 genomes]
rs255874	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs26960	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs26983	0.83[AMR][1000 genomes]
rs26985	0.81[AMR][1000 genomes]
rs26987	0.83[ASN][1000 genomes]
rs26988	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs27566	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs27700	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2910018	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2914252	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs34075952	0.84[AMR][1000 genomes]
rs348927	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs348933	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs348936	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs348949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348950	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348959	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36612	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs368352	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3763139	0.83[ASN][1000 genomes]
rs3857435	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3857437	0.85[AMR][1000 genomes]
rs3906371	0.83[AMR][1000 genomes]
rs3936062	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs406288	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs423089	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4235796	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4415069	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4438867	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4444963	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs459428	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs461034	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs463216	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4639215	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs465898	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs466564	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4705830	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705831	0.80[EUR][1000 genomes]
rs57617774	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62373764	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6594711	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594736	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs675353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6869097	0.81[AFR][1000 genomes]
rs6881976	0.87[ASN][1000 genomes]
rs6886338	0.84[ASN][1000 genomes]
rs7702120	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7702405	0.82[EUR][1000 genomes]
rs7703233	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7713348	0.84[AMR][1000 genomes]
rs7713378	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7730802	0.85[AMR][1000 genomes]
rs9326895	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9686772	0.89[AMR][1000 genomes];0.91[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112810200-112823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:112813400-112822800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112820600-112823000	Weak transcription	Right Ventricle	heart
4	chr5:112821000-112821800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112821000-112822200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:112821600-112821800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:112821600-112821800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:112821600-112822000	Flanking Active TSS	HMEC	breast
9	chr5:112821600-112822200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:112821600-112822200	Enhancers	NHEK	skin

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