Variant report

Variant	rs72804430
Chromosome Location	chr2:47025378-47025379
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	chr2:47006608..47009505-chr2:47024005..47026288,2	K562	blood:
2	chr2:47023110..47025675-chr2:47027634..47029876,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1446496	0.86[AMR][1000 genomes]
rs1446497	0.86[AMR][1000 genomes]
rs1446498	0.86[AMR][1000 genomes]
rs17771942	0.86[AMR][1000 genomes]
rs17772285	0.86[AMR][1000 genomes]
rs17773016	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17821989	0.86[AMR][1000 genomes]
rs17822782	0.86[AMR][1000 genomes]
rs17823065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17823581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2045290	0.86[AMR][1000 genomes]
rs41489952	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56199036	0.86[AMR][1000 genomes]
rs56800355	0.86[AMR][1000 genomes]
rs57420323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58200475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58509367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58903656	0.86[AMR][1000 genomes]
rs72802420	0.86[AMR][1000 genomes]
rs72802426	0.86[AMR][1000 genomes]
rs72802448	0.86[AMR][1000 genomes]
rs72802451	0.86[AMR][1000 genomes]
rs72802454	0.86[AMR][1000 genomes]
rs72802455	0.86[AMR][1000 genomes]
rs72802456	0.86[AMR][1000 genomes]
rs72802458	0.86[AMR][1000 genomes]
rs72802462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72802464	0.83[AMR][1000 genomes]
rs72802465	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72802466	0.86[AMR][1000 genomes]
rs72802467	0.86[AMR][1000 genomes]
rs72802468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72802469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72802470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72802486	0.86[AMR][1000 genomes]
rs72802487	0.86[AMR][1000 genomes]
rs72802492	0.86[AMR][1000 genomes]
rs72802493	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72802498	0.86[AMR][1000 genomes]
rs72802499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72802501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72802502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72804404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47019400-47029200	Weak transcription	Aorta	Aorta
2	chr2:47021400-47032600	Weak transcription	Pancreas	Pancrea
3	chr2:47021800-47027400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:47022200-47026400	Enhancers	NHDF-Ad	bronchial
5	chr2:47022200-47031000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:47023200-47025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47023400-47027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:47023800-47028200	Enhancers	NHLF	lung
9	chr2:47024200-47025400	Enhancers	HSMM	muscle
10	chr2:47024600-47027200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:47024600-47029200	Weak transcription	Lung	lung
12	chr2:47024800-47027200	Weak transcription	Primary T cells from cord blood	blood
13	chr2:47025000-47025800	Enhancers	Osteobl	bone
14	chr2:47025000-47034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:47025200-47025400	Enhancers	Right Ventricle	heart
16	chr2:47025200-47025400	Enhancers	Spleen	Spleen
17	chr2:47025200-47025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:47025200-47026000	Enhancers	HMEC	breast
19	chr2:47025200-47026600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:47025200-47026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:47025200-47029200	Weak transcription	Right Atrium	heart
22	chr2:47025200-47029400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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