Variant report

Variant	rs17383309
Chromosome Location	chr13:51187371-51187372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1341635	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17383141	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71436234	0.87[EUR][1000 genomes]
rs7991818	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51181800-51204600	Weak transcription	Pancreas	Pancrea
2	chr13:51184400-51188200	Enhancers	Fetal Thymus	thymus
3	chr13:51184600-51188400	Enhancers	K562	blood
4	chr13:51186000-51191200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:51186400-51191000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:51186600-51187800	Weak transcription	Left Ventricle	heart
7	chr13:51186600-51188000	Enhancers	Fetal Muscle Leg	muscle
8	chr13:51186600-51190800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:51186600-51191000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:51187000-51188400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:51187000-51190200	Weak transcription	Dnd41	blood
12	chr13:51187000-51190800	Weak transcription	Primary B cells from cord blood	blood
13	chr13:51187000-51191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:51187000-51191400	Weak transcription	Thymus	Thymus
15	chr13:51187200-51188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:51187200-51190800	Weak transcription	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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