Variant report

Variant	rs2042980
Chromosome Location	chr5:80693187-80693188
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:13)

rs_ID	r²[population]
rs10044997	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1013008	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1013009	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11954685	0.90[EUR][1000 genomes]
rs12519060	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12697702	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13154060	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35627535	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35856763	0.88[EUR][1000 genomes]
rs60995704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62366200	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62366205	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62366206	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80689800-80693200	Weak transcription	Fetal Brain Male	brain
2	chr5:80690600-80694600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:80690600-80702800	Weak transcription	Fetal Brain Female	brain
4	chr5:80691800-80693800	Enhancers	Liver	Liver
5	chr5:80692000-80694000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:80692600-80694200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:80692800-80693200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:80692800-80693200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:80692800-80693600	Enhancers	Osteobl	bone
10	chr5:80692800-80693800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:80693000-80693200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:80693000-80693200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:80693000-80693400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:80693000-80693400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:80693000-80693400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:80693000-80693400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:80693000-80693400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:80693000-80693400	Enhancers	Fetal Muscle Leg	muscle
19	chr5:80693000-80693600	Enhancers	NHLF	lung

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Input of quick search could be:

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

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