Variant report

Variant	rs34861916
Chromosome Location	chr6:53629875-53629876
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	chr6:53629866..53632112-chr6:53657919..53661067,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228614	Chromatin interaction
ENSG00000137269	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10948779	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11755346	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220665	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745462	0.81[AMR][1000 genomes]
rs2820216	0.81[AMR][1000 genomes]
rs3000996	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3000997	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3000999	0.88[EUR][1000 genomes]
rs3001000	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3001001	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3001002	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3001009	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3001010	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3003489	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3003491	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3003493	0.85[EUR][1000 genomes]
rs3003500	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3003501	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34165049	0.94[EUR][1000 genomes]
rs34880762	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35389351	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35517171	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35756855	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813849	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236113	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4236115	0.81[AMR][1000 genomes]
rs4265033	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4276502	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4286781	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4321822	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4326237	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4336450	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4351263	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4382260	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4398733	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4437471	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4484515	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4489155	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4591854	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4615391	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4712048	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4712049	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4715424	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715426	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59641455	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60035355	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458957	0.89[EUR][1000 genomes]
rs6458958	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6458959	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6458961	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6458962	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6458965	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6458966	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6458969	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6650996	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6899752	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920743	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6924025	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6925836	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926478	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6937901	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71555560	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739965	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7753504	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7754791	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7759946	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762883	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7763081	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7763147	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7769893	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7774173	0.81[AMR][1000 genomes]
rs9296719	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9296721	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9367544	0.82[EUR][1000 genomes]
rs9370235	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9370239	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9382234	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382237	0.89[EUR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53601600-53638000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:53618200-53630200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:53618800-53635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:53619400-53633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:53629400-53633600	Enhancers	HSMMtube	muscle
6	chr6:53629600-53630000	Enhancers	HepG2	liver
7	chr6:53629600-53630800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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