Variant report

Variant	rs73492049
Chromosome Location	chr13:51305660-51305661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1323887	1.00[ASN][1000 genomes]
rs17074908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074927	1.00[EUR][1000 genomes]
rs17350448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476619	1.00[ASN][1000 genomes]
rs2476624	1.00[ASN][1000 genomes]
rs2497094	1.00[ASN][1000 genomes]
rs73495626	1.00[EUR][1000 genomes]
rs74081116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74081118	1.00[ASN][1000 genomes]
rs7984960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990412	1.00[EUR][1000 genomes]
rs7990423	1.00[ASN][1000 genomes]
rs7996529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591350	1.00[ASN][1000 genomes]
rs9596342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596343	1.00[EUR][1000 genomes];1.00[ASN][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	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
5	nsv561643	chr13:51286083-51306330	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51295400-51306600	Weak transcription	Esophagus	oesophagus
2	chr13:51296600-51306600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr13:51299400-51306600	Weak transcription	Left Ventricle	heart
4	chr13:51301400-51307000	Weak transcription	Fetal Heart	heart
5	chr13:51302400-51307000	Weak transcription	Fetal Thymus	thymus
6	chr13:51304000-51308600	Enhancers	Dnd41	blood
7	chr13:51304400-51306400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:51304800-51307400	Enhancers	Osteobl	bone
9	chr13:51305000-51305800	Enhancers	HSMMtube	muscle
10	chr13:51305000-51306000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:51305000-51307800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:51305000-51307800	Enhancers	HMEC	breast
13	chr13:51305200-51305800	Enhancers	NHDF-Ad	bronchial
14	chr13:51305200-51307200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:51305200-51307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:51305400-51306000	Enhancers	Brain Anterior Caudate	brain
17	chr13:51305400-51306000	Enhancers	HSMM	muscle
18	chr13:51305400-51306000	Enhancers	NH-A	brain
19	chr13:51305400-51306200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:51305400-51307200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:51305600-51305800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:51305600-51305800	Enhancers	Brain Hippocampus Middle	brain
23	chr13:51305600-51306000	Enhancers	Brain Cingulate Gyrus	brain
24	chr13:51305600-51306400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:51305600-51306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:51305600-51307400	Enhancers	NHEK	skin

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