Variant report

Variant	rs73087431
Chromosome Location	chr5:42613571-42613572
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	chr5:42606726..42608247-chr5:42612440..42614647,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28943883	0.89[AFR][1000 genomes]
rs4076892	1.00[AMR][1000 genomes]
rs4361525	0.89[AFR][1000 genomes]
rs58233460	0.89[AFR][1000 genomes]
rs59707000	0.89[AFR][1000 genomes]
rs67846731	1.00[AMR][1000 genomes]
rs6876245	0.89[AFR][1000 genomes]
rs73082806	1.00[AMR][1000 genomes]
rs73083416	1.00[AMR][1000 genomes]
rs73085450	0.89[AFR][1000 genomes]
rs73085452	0.89[AFR][1000 genomes]
rs73087424	0.89[AFR][1000 genomes]
rs73087427	0.89[AFR][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1027023	chr5:42610250-42654999	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42592000-42614400	Weak transcription	Aorta	Aorta
2	chr5:42607000-42621000	Weak transcription	Left Ventricle	heart
3	chr5:42609200-42613600	Enhancers	Liver	Liver
4	chr5:42610200-42620600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:42610800-42626800	Weak transcription	Pancreas	Pancrea
6	chr5:42611800-42616200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:42612200-42615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:42612400-42614000	Enhancers	Fetal Lung	lung
9	chr5:42612400-42615600	Enhancers	NHLF	lung
10	chr5:42612800-42613600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:42612800-42613600	Enhancers	HMEC	breast
12	chr5:42612800-42613600	Enhancers	HSMM	muscle
13	chr5:42612800-42614200	Enhancers	Adipose Nuclei	Adipose
14	chr5:42612800-42614200	Enhancers	Psoas Muscle	Psoas
15	chr5:42612800-42614800	Enhancers	NHDF-Ad	bronchial
16	chr5:42612800-42615200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:42612800-42615200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:42612800-42615200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr5:42612800-42615200	Enhancers	Ovary	ovary
20	chr5:42612800-42615200	Enhancers	Osteobl	bone
21	chr5:42612800-42615400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:42612800-42616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:42613000-42614600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:42613000-42615000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:42613200-42613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:42613200-42615200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:42613400-42613600	Enhancers	HSMMtube	muscle
28	chr5:42613400-42614800	Weak transcription	Colon Smooth Muscle	Colon

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