Variant report

Variant	rs797509
Chromosome Location	chr13:51282422-51282423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1772866	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2706236	0.85[EUR][1000 genomes]
rs2794464	0.84[EUR][1000 genomes]
rs706593	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs797494	0.86[EUR][1000 genomes]
rs797496	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs797498	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs797504	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs797505	0.94[ASN][1000 genomes]
rs797506	0.94[ASN][1000 genomes]
rs797507	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr13:51269400-51296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:51272800-51285600	Weak transcription	Fetal Stomach	stomach
3	chr13:51276000-51282600	Weak transcription	Fetal Lung	lung
4	chr13:51277800-51283000	Enhancers	Fetal Thymus	thymus
5	chr13:51279600-51282800	Enhancers	Thymus	Thymus
6	chr13:51280000-51284200	Enhancers	Dnd41	blood
7	chr13:51280400-51282600	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:51280800-51283000	Enhancers	Fetal Muscle Leg	muscle
9	chr13:51281200-51282800	Enhancers	Primary B cells from cord blood	blood
10	chr13:51281600-51282800	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:51281600-51282800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr13:51281600-51283800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:51281800-51282600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:51281800-51282800	Enhancers	Brain Cingulate Gyrus	brain
15	chr13:51281800-51283000	Enhancers	Brain Hippocampus Middle	brain
16	chr13:51281800-51283600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr13:51281800-51283600	Enhancers	Right Atrium	heart
18	chr13:51282000-51282800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:51282000-51283200	Enhancers	Brain Substantia Nigra	brain
20	chr13:51282200-51282600	Flanking Active TSS	Fetal Heart	heart
21	chr13:51282200-51283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:51282200-51283000	Enhancers	Brain Anterior Caudate	brain
23	chr13:51282400-51282800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:51282400-51282800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr13:51282400-51283000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:51282400-51283000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:51282400-51283000	Enhancers	Right Ventricle	heart
28	chr13:51282400-51286600	Weak transcription	HSMMtube	muscle

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