Variant report

Variant	rs62509933
Chromosome Location	chr8:87107700-87107701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr8:87107522-87107857	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr8:87107542-87107817	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr8:87107691-87107790	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr8:87107558-87107862	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr8:87107560-87107710	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87099204..87102058-chr8:87106597..87109469,2	MCF-7	breast:

Variant related genes	Relation type
ATP6V0D2	TF binding region
ENSG00000147613	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10102252	0.83[ASN][1000 genomes]
rs10103166	0.81[ASN][1000 genomes]
rs10106497	0.85[ASN][1000 genomes]
rs10107781	0.90[ASN][1000 genomes]
rs10504819	0.87[ASN][1000 genomes]
rs10955870	0.93[ASN][1000 genomes]
rs11988449	0.88[ASN][1000 genomes]
rs12156049	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12156243	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12549188	0.84[AMR][1000 genomes]
rs12682430	0.91[ASN][1000 genomes]
rs13252217	0.84[AMR][1000 genomes]
rs13257877	0.85[ASN][1000 genomes]
rs13274057	0.85[ASN][1000 genomes]
rs13281890	0.83[ASN][1000 genomes]
rs1351777	0.85[ASN][1000 genomes]
rs1384877	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1384878	0.88[ASN][1000 genomes]
rs1384879	0.88[ASN][1000 genomes]
rs1483765	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483774	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1601151	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16876450	0.84[AMR][1000 genomes]
rs16878983	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16881545	0.98[ASN][1000 genomes]
rs16883602	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1872135	0.91[ASN][1000 genomes]
rs1968869	0.84[ASN][1000 genomes]
rs2220106	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2318936	0.94[ASN][1000 genomes]
rs34300959	0.84[AMR][1000 genomes]
rs34441347	0.84[AMR][1000 genomes]
rs35910910	0.90[ASN][1000 genomes]
rs4370510	0.97[ASN][1000 genomes]
rs4960948	0.99[ASN][1000 genomes]
rs4960953	0.88[ASN][1000 genomes]
rs4960954	0.87[ASN][1000 genomes]
rs4960955	0.85[ASN][1000 genomes]
rs4961057	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4961068	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4961071	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961072	0.93[ASN][1000 genomes]
rs4961074	0.99[ASN][1000 genomes]
rs4961075	0.93[ASN][1000 genomes]
rs4961077	0.86[ASN][1000 genomes]
rs4961078	0.90[ASN][1000 genomes]
rs4961092	0.83[ASN][1000 genomes]
rs57368948	0.80[ASN][1000 genomes]
rs57651622	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57962008	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58243820	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59028033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60506092	0.91[ASN][1000 genomes]
rs61629815	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62509893	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62509894	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62509924	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62509930	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469703	0.94[ASN][1000 genomes]
rs6981194	0.89[ASN][1000 genomes]
rs6993377	0.90[ASN][1000 genomes]
rs6998760	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7000491	0.94[ASN][1000 genomes]
rs7001674	0.85[ASN][1000 genomes]
rs7001699	0.85[ASN][1000 genomes]
rs7005999	0.94[ASN][1000 genomes]
rs7016268	0.85[ASN][1000 genomes]
rs7813508	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821560	0.85[ASN][1000 genomes]
rs7830744	0.82[AMR][1000 genomes]
rs7831328	0.92[ASN][1000 genomes]
rs7836003	0.90[ASN][1000 genomes]
rs7846145	0.94[ASN][1000 genomes]
rs9643132	0.93[ASN][1000 genomes]
rs9643143	0.85[ASN][1000 genomes]
rs9643144	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3493409	chr8:87085885-87109161	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3493410	chr8:87085885-87109161	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv611673	chr8:87106710-87136320	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87082400-87126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87106200-87108000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:87106400-87110800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:87107000-87114000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:87107400-87107800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:87107400-87108200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:87107600-87107800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:87107600-87108400	Enhancers	HMEC	breast

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