Variant report

Variant	rs4596474
Chromosome Location	chr6:55410868-55410869
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:55408291..55411136-chr6:55443086..55445470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146151	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10223668	0.89[EUR][1000 genomes]
rs10755781	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10948936	0.88[EUR][1000 genomes]
rs10948939	0.91[EUR][1000 genomes]
rs10948941	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10948942	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195913	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12202288	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12209478	0.90[EUR][1000 genomes]
rs13206666	0.89[EUR][1000 genomes]
rs3800027	0.88[EUR][1000 genomes]
rs3925003	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4075708	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4075709	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4144577	0.89[EUR][1000 genomes]
rs4144579	0.85[AFR][1000 genomes]
rs4236132	0.89[EUR][1000 genomes]
rs4283891	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4314500	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4346853	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4360137	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4382261	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4388287	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4404773	0.88[EUR][1000 genomes]
rs4431436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4445058	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4454140	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4479933	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4489157	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4496787	0.89[EUR][1000 genomes]
rs4501434	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4520017	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4521577	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4537142	0.89[EUR][1000 genomes]
rs4538708	0.87[EUR][1000 genomes]
rs4543375	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4569966	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4588676	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4599641	0.86[EUR][1000 genomes]
rs6459082	0.89[EUR][1000 genomes]
rs6459083	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6459084	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6905376	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6908139	0.89[EUR][1000 genomes]
rs6914087	0.90[EUR][1000 genomes]
rs6914816	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6919350	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6925488	0.89[EUR][1000 genomes]
rs6928264	0.81[EUR][1000 genomes]
rs6936172	0.90[EUR][1000 genomes]
rs7452170	0.90[EUR][1000 genomes]
rs7740208	0.90[EUR][1000 genomes]
rs7741830	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7744273	0.91[EUR][1000 genomes]
rs7744986	0.90[EUR][1000 genomes]
rs7745290	0.89[EUR][1000 genomes]
rs7756201	0.86[EUR][1000 genomes]
rs7760065	0.89[EUR][1000 genomes]
rs7761740	0.91[EUR][1000 genomes]
rs9296793	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9367640	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9367641	0.85[AFR][1000 genomes]
rs9370438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382497	0.88[EUR][1000 genomes]
rs9382506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464253	0.89[EUR][1000 genomes]
rs9464254	0.89[EUR][1000 genomes]
rs9464258	0.90[EUR][1000 genomes]
rs9475333	0.89[EUR][1000 genomes]
rs9475335	0.89[EUR][1000 genomes]
rs9475336	0.89[EUR][1000 genomes]
rs9475337	0.90[EUR][1000 genomes]
rs9475339	0.90[EUR][1000 genomes]
rs9475341	0.81[EUR][1000 genomes]
rs9475342	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9475344	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9791201	0.90[EUR][1000 genomes]
rs9791304	0.87[EUR][1000 genomes]
rs9791308	0.90[EUR][1000 genomes]
rs9791360	0.90[EUR][1000 genomes]
rs9885775	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv948358	chr6:55351282-55477277	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1026411	chr6:55372845-55653498	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55400400-55418600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:55410200-55411000	Enhancers	Pancreatic Islets	Pancreatic Islet

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