Variant report

Variant	rs72802415
Chromosome Location	chr2:46916037-46916038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46915855..46917491-chr2:46923839..46925378,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495937	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11903382	0.83[EUR][1000 genomes]
rs1446496	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1446497	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1446498	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1563406	0.82[EUR][1000 genomes]
rs17767307	1.00[AFR][1000 genomes]
rs17769580	0.83[EUR][1000 genomes]
rs17769689	0.83[EUR][1000 genomes]
rs17771005	0.89[EUR][1000 genomes]
rs17771017	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17771098	0.85[EUR][1000 genomes]
rs17771201	0.85[EUR][1000 genomes]
rs17771237	0.83[EUR][1000 genomes]
rs17771255	0.83[EUR][1000 genomes]
rs17771357	0.83[EUR][1000 genomes]
rs17771942	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17772285	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17772991	1.00[AFR][1000 genomes]
rs17820969	0.85[EUR][1000 genomes]
rs17821218	0.85[EUR][1000 genomes]
rs17821989	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17822782	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2045290	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2124472	0.82[EUR][1000 genomes]
rs3927078	0.83[EUR][1000 genomes]
rs41371146	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs41379148	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs55874432	0.88[EUR][1000 genomes]
rs55928499	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56006635	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56199036	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56224128	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56800355	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57124017	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58903656	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6731970	0.89[EUR][1000 genomes]
rs6735101	0.89[EUR][1000 genomes]
rs72800535	1.00[AFR][1000 genomes]
rs72800543	1.00[AFR][1000 genomes]
rs72800550	1.00[AFR][1000 genomes]
rs72800576	0.82[EUR][1000 genomes]
rs72800577	0.82[EUR][1000 genomes]
rs72800587	0.83[EUR][1000 genomes]
rs72800597	0.85[EUR][1000 genomes]
rs72800599	0.85[EUR][1000 genomes]
rs72800600	0.85[EUR][1000 genomes]
rs72800602	0.85[EUR][1000 genomes]
rs72802404	0.85[EUR][1000 genomes]
rs72802406	0.85[EUR][1000 genomes]
rs72802407	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72802408	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72802411	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72802412	0.84[AMR][1000 genomes]
rs72802420	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802426	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802428	0.80[EUR][1000 genomes]
rs72802429	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72802430	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72802435	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72802441	0.90[EUR][1000 genomes]
rs72802444	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72802448	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802451	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802454	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802455	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802456	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802458	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802463	0.90[EUR][1000 genomes]
rs72802466	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802467	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802486	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802487	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72802492	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802498	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7566275	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3365634	chr2:46910377-46929000	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3460455	chr2:46910422-46928955	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3460454	chr2:46910435-46928955	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3460456	chr2:46910436-46928951	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46911600-46916800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:46911600-46924600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:46912000-46917000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:46912200-46917000	Weak transcription	Osteobl	bone
5	chr2:46912400-46917200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:46912400-46917200	Weak transcription	A549	lung
7	chr2:46912400-46917600	Weak transcription	HUVEC	blood vessel
8	chr2:46912600-46917000	Weak transcription	Hela-S3	cervix
9	chr2:46912800-46916800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:46912800-46917000	Weak transcription	NHDF-Ad	bronchial
11	chr2:46912800-46917000	Weak transcription	NHLF	lung
12	chr2:46916000-46917200	Weak transcription	Placenta Amnion	Placenta Amnion

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