Variant report

Variant	rs72802407
Chromosome Location	chr2:46905700-46905701
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	chr2:46884800..46886998-chr2:46904388..46907099,2	K562	blood:
2	chr2:46905228..46908369-chr2:46910696..46912754,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10495937	0.86[EUR][1000 genomes]
rs1446496	0.85[EUR][1000 genomes]
rs1446497	0.85[EUR][1000 genomes]
rs1446498	0.85[EUR][1000 genomes]
rs1563406	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17035429	0.83[EUR][1000 genomes]
rs17035437	0.83[EUR][1000 genomes]
rs17035438	0.83[EUR][1000 genomes]
rs17769041	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17769580	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17769689	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17769921	0.89[EUR][1000 genomes]
rs17771017	0.85[EUR][1000 genomes]
rs17771942	0.85[EUR][1000 genomes]
rs17772285	0.85[EUR][1000 genomes]
rs17820969	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17821218	0.97[EUR][1000 genomes]
rs17821989	0.85[EUR][1000 genomes]
rs17822782	0.85[EUR][1000 genomes]
rs2045290	0.85[EUR][1000 genomes]
rs2124472	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3927078	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41379148	0.85[EUR][1000 genomes]
rs55775748	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs56199036	0.85[EUR][1000 genomes]
rs56800355	0.85[EUR][1000 genomes]
rs58903656	0.85[EUR][1000 genomes]
rs6732079	0.83[EUR][1000 genomes]
rs72800570	0.83[EUR][1000 genomes]
rs72800576	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72800577	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72800587	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72800597	0.97[EUR][1000 genomes]
rs72800599	0.97[EUR][1000 genomes]
rs72800600	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72800602	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72802404	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72802406	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72802408	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72802411	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72802412	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72802415	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72802420	0.85[EUR][1000 genomes]
rs72802426	0.85[EUR][1000 genomes]
rs72802444	0.85[EUR][1000 genomes]
rs72802448	0.85[EUR][1000 genomes]
rs72802451	0.85[EUR][1000 genomes]
rs72802454	0.85[EUR][1000 genomes]
rs72802455	0.85[EUR][1000 genomes]
rs72802456	0.85[EUR][1000 genomes]
rs72802458	0.83[EUR][1000 genomes]
rs72802466	0.85[EUR][1000 genomes]
rs72802467	0.85[EUR][1000 genomes]
rs72802486	0.85[EUR][1000 genomes]
rs72802487	0.85[EUR][1000 genomes]
rs72802492	0.83[EUR][1000 genomes]
rs72802498	0.80[EUR][1000 genomes]
rs7566275	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46898200-46905800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46901600-46907000	Weak transcription	NHLF	lung
3	chr2:46902400-46907200	Weak transcription	Osteobl	bone
4	chr2:46902600-46909600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:46905600-46907400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:46905600-46909600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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