Variant report

Variant	rs2596108
Chromosome Location	chr14:81175607-81175608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10143005	0.87[ASN][1000 genomes]
rs1031299	0.88[ASN][1000 genomes]
rs11846048	0.86[ASN][1000 genomes]
rs12878836	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1449526	0.86[ASN][1000 genomes]
rs1564940	0.86[ASN][1000 genomes]
rs1960882	0.81[ASN][1000 genomes]
rs2060596	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2371335	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371336	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619673	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619674	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2619676	0.86[ASN][1000 genomes]
rs8019534	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81163200-81177800	Weak transcription	A549	lung
2	chr14:81166200-81180200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:81167600-81181400	Weak transcription	Fetal Thymus	thymus
4	chr14:81168400-81184200	Weak transcription	Thymus	Thymus
5	chr14:81171000-81180600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:81172400-81185200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:81172600-81185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:81175600-81178600	Enhancers	Dnd41	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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