Variant report

Variant	rs73214267
Chromosome Location	chr5:111737430-111737431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57316195	1.00[AFR][1000 genomes]
rs59211658	1.00[AFR][1000 genomes]
rs73214244	1.00[AFR][1000 genomes]
rs73214251	1.00[AFR][1000 genomes]
rs73214262	1.00[AFR][1000 genomes]
rs73222149	1.00[AFR][1000 genomes]
rs73222169	1.00[AFR][1000 genomes]
rs73223867	1.00[AFR][1000 genomes]
rs73225753	1.00[AFR][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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111709200-111745400	Weak transcription	Esophagus	oesophagus
2	chr5:111720400-111742800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:111724600-111737600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:111725600-111738000	Weak transcription	Adipose Nuclei	Adipose
5	chr5:111725800-111742400	Weak transcription	Fetal Kidney	kidney
6	chr5:111726200-111742400	Weak transcription	Lung	lung
7	chr5:111726400-111738800	Weak transcription	Left Ventricle	heart
8	chr5:111726400-111742400	Weak transcription	Pancreas	Pancrea
9	chr5:111727000-111738000	Weak transcription	Fetal Heart	heart
10	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:111730800-111742800	Weak transcription	Hela-S3	cervix
13	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:111732400-111742400	Weak transcription	Spleen	Spleen
15	chr5:111732600-111747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:111732600-111749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:111732800-111742600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:111735600-111742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:111736000-111747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:111736200-111738000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:111736600-111738400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:111736800-111738000	Enhancers	Right Atrium	heart

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