Variant report

Variant	rs10863640
Chromosome Location	chr1:221774668-221774669
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	chr1:221774036..221776758-chr1:221913845..221916015,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1018334	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10442685	0.84[AMR][1000 genomes]
rs10495172	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779452	0.83[AFR][1000 genomes]
rs11118768	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11118777	0.84[EUR][1000 genomes]
rs11118778	0.84[AMR][1000 genomes]
rs11118781	0.83[AFR][1000 genomes]
rs12023780	0.83[AMR][1000 genomes]
rs12026281	0.84[AMR][1000 genomes]
rs12029530	0.84[AMR][1000 genomes]
rs12029601	0.84[AMR][1000 genomes]
rs12744368	0.83[AFR][1000 genomes]
rs12748524	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12753128	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1338074	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1858565	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1879068	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1933268	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1967553	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3860323	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3860324	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4436399	0.84[AMR][1000 genomes]
rs4450027	0.84[AMR][1000 genomes]
rs4484930	0.84[AMR][1000 genomes]
rs4498809	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6658414	0.84[AMR][1000 genomes]
rs6658746	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6658755	0.84[AMR][1000 genomes]
rs6663135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6663415	0.84[AMR][1000 genomes]
rs6663637	0.84[AMR][1000 genomes]
rs6663644	0.89[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6666514	0.84[AMR][1000 genomes]
rs6677071	0.85[EUR][1000 genomes]
rs6697462	0.84[AMR][1000 genomes]
rs6700617	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7539000	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1808490	chr1:221743979-221779026	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221771800-221784600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221772000-221779000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:221774200-221775400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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