Variant report

Variant	rs73263257
Chromosome Location	chr5:147283390-147283391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10071367	0.81[AFR][1000 genomes]
rs10075900	0.85[AFR][1000 genomes]
rs10476889	0.85[AFR][1000 genomes]
rs10477353	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11505126	0.86[AFR][1000 genomes]
rs12171507	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13355947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13360221	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13435996	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436526	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6881482	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261368	0.87[AFR][1000 genomes]
rs73261392	0.87[AFR][1000 genomes]
rs73263243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73263261	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
2	chr5:147277400-147284800	Enhancers	NH-A	brain
3	chr5:147279000-147284800	Weak transcription	Osteobl	bone
4	chr5:147279600-147283600	Weak transcription	HMEC	breast
5	chr5:147279800-147285200	Weak transcription	Hela-S3	cervix
6	chr5:147280400-147286000	Weak transcription	Stomach Mucosa	stomach
7	chr5:147280600-147283400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:147281400-147283400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:147281400-147285800	Weak transcription	HSMMtube	muscle
10	chr5:147281600-147283400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:147281800-147285000	Weak transcription	Fetal Heart	heart
12	chr5:147281800-147285800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:147282400-147283400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:147282600-147283400	Weak transcription	Aorta	Aorta
15	chr5:147282600-147283600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:147282600-147283600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:147283200-147284000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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