Variant report

Variant	rs2814078
Chromosome Location	chr1:227678464-227678465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1495852	0.91[EUR][1000 genomes]
rs2644157	0.88[EUR][1000 genomes]
rs2644158	0.88[EUR][1000 genomes]
rs2814057	0.90[EUR][1000 genomes]
rs2814077	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2814082	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2814078	ITPKB	cis	lymphoblastoid	seeQTL
rs2814078	ZNF678	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227676800-227678600	Enhancers	Left Ventricle	heart
2	chr1:227676800-227678600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:227676800-227679200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:227677800-227678600	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:227678000-227680200	Weak transcription	Placenta	Placenta
6	chr1:227678400-227678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:227678400-227679800	Weak transcription	Right Atrium	heart

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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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