Variant report

Variant	rs56219078
Chromosome Location	chr5:60508492-60508493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10939886	0.85[EUR][1000 genomes]
rs12513581	0.85[EUR][1000 genomes]
rs159360	0.85[EUR][1000 genomes]
rs194369	0.88[EUR][1000 genomes]
rs2055375	0.85[EUR][1000 genomes]
rs256374	0.82[EUR][1000 genomes]
rs34627	0.85[EUR][1000 genomes]
rs34631	0.85[EUR][1000 genomes]
rs34634	0.88[EUR][1000 genomes]
rs40506	0.85[EUR][1000 genomes]
rs476099	0.85[EUR][1000 genomes]
rs62366215	0.81[EUR][1000 genomes]
rs6864095	0.83[EUR][1000 genomes]
rs6864489	0.82[EUR][1000 genomes]
rs6868457	0.81[EUR][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	esv1845980	chr5:60481408-60511495	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56219078	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60508000-60509000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:60508200-60508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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