Variant report

Variant	rs1272384
Chromosome Location	chr8:102854283-102854284
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102852494..102855006-chr8:102859200..102861225,2	MCF-7	breast:
2	chr8:102847609..102850390-chr8:102853581..102855226,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238372	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1144545	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1148496	0.95[ASN][1000 genomes]
rs1148497	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1148498	0.90[ASN][1000 genomes]
rs1148499	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1148501	0.89[ASN][1000 genomes]
rs1264865	0.95[ASN][1000 genomes]
rs1264866	0.90[ASN][1000 genomes]
rs1264930	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1264931	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1264932	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1264933	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1264952	0.88[ASN][1000 genomes]
rs1264953	0.83[ASN][1000 genomes]
rs1264954	0.89[ASN][1000 genomes]
rs2155938	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155939	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155940	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2155941	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509895	0.88[ASN][1000 genomes]
rs28623673	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs472471	0.97[ASN][1000 genomes]
rs472638	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs472963	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478189	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs478875	0.92[ASN][1000 genomes]
rs478917	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs479041	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs480570	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs480955	0.81[AMR][1000 genomes]
rs481545	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs485252	0.82[EUR][1000 genomes]
rs485263	0.82[EUR][1000 genomes]
rs485363	0.83[EUR][1000 genomes]
rs486196	0.81[AMR][1000 genomes]
rs488034	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489973	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs494352	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs495636	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs502334	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs513472	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs519197	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs520880	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs529684	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs531624	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs534512	0.90[ASN][1000 genomes]
rs537941	0.94[ASN][1000 genomes]
rs539663	0.92[ASN][1000 genomes]
rs540459	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs549281	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs551295	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs562037	0.81[EUR][1000 genomes]
rs563463	0.82[EUR][1000 genomes]
rs566264	0.81[AMR][1000 genomes]
rs566315	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs566392	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs568194	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs569015	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs569787	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs576173	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs577756	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67887846	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991592	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7828175	0.88[EUR][1000 genomes]
rs7829693	0.92[EUR][1000 genomes]
rs7842147	0.89[EUR][1000 genomes]
rs9297313	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102845400-102862000	Weak transcription	Left Ventricle	heart
3	chr8:102845600-102855000	Weak transcription	Aorta	Aorta
4	chr8:102846800-102866400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:102852000-102854600	Enhancers	GM12878-XiMat	blood
6	chr8:102852200-102854800	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:102853800-102854800	Weak transcription	Psoas Muscle	Psoas
8	chr8:102854200-102854600	Enhancers	HMEC	breast
9	chr8:102854200-102855000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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