Variant report

Variant	rs72800576
Chromosome Location	chr2:46889384-46889385
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	chr2:46883898..46887037-chr2:46888701..46892071,3	K562	blood:
2	chr2:46880745..46883271-chr2:46889135..46890937,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495937	0.83[EUR][1000 genomes]
rs1563406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17035429	0.87[EUR][1000 genomes]
rs17035437	0.87[EUR][1000 genomes]
rs17035438	0.87[EUR][1000 genomes]
rs17769041	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17769580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17769689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17769921	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17820969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17821218	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2124472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3927078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55775748	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6732079	0.87[EUR][1000 genomes]
rs72800570	0.87[EUR][1000 genomes]
rs72800577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72800587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72800597	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72800599	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72800600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72800602	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72802404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72802406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72802407	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72802408	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72802411	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72802412	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72802415	0.82[EUR][1000 genomes]
rs7566275	0.82[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46870000-46891000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:46870200-46889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46882400-46889800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:46884000-46889800	Weak transcription	Left Ventricle	heart
5	chr2:46884200-46889600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:46884200-46889600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:46884200-46890000	Weak transcription	Right Atrium	heart
8	chr2:46884200-46891000	Weak transcription	Pancreas	Pancrea
9	chr2:46884400-46889400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:46884400-46889600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:46884400-46896400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:46884600-46889600	Weak transcription	Fetal Heart	heart
13	chr2:46884600-46889600	Weak transcription	NHDF-Ad	bronchial
14	chr2:46884600-46889800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:46884600-46890000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:46884600-46890000	Weak transcription	Right Ventricle	heart
17	chr2:46884800-46889400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:46884800-46889400	Weak transcription	Osteobl	bone
19	chr2:46884800-46889800	Weak transcription	Fetal Lung	lung
20	chr2:46884800-46892600	Weak transcription	A549	lung
21	chr2:46885000-46889600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:46885200-46893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:46888600-46890000	Weak transcription	Psoas Muscle	Psoas
24	chr2:46888800-46889600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:46888800-46891600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:46889000-46889400	Weak transcription	Ovary	ovary
27	chr2:46889000-46889600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:46889000-46896800	Enhancers	Fetal Muscle Leg	muscle
29	chr2:46889200-46889400	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:46889200-46890000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:46889200-46896400	Enhancers	Colon Smooth Muscle	Colon

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