Variant report

Variant	rs1949507
Chromosome Location	chr1:221839699-221839700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221816826..221819415-chr1:221839496..221842221,2	MCF-7	breast:
2	chr1:221836329..221837894-chr1:221839108..221841311,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10779452	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10779453	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11118781	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11118782	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11118783	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11118785	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11118786	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11118787	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11118800	0.86[ASN][1000 genomes]
rs11118820	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12034889	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12034891	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12038253	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12406067	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12740627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12744344	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12744368	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12744805	0.82[EUR][1000 genomes]
rs2139349	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2176691	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4356058	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4504898	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4598493	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6661629	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6701049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7355123	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7520263	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7523649	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7529202	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7539000	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[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	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221837400-221840400	Weak transcription	HMEC	breast
2	chr1:221837400-221840600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:221837400-221840600	Weak transcription	Stomach Mucosa	stomach
4	chr1:221837400-221840600	Weak transcription	Hela-S3	cervix
5	chr1:221838000-221840600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:221839600-221839800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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