Variant report

Variant	rs7549565
Chromosome Location	chr1:227679714-227679715
allele	G/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:16)

rs_ID	r²[population]
rs10799414	1.00[JPT][hapmap]
rs10799420	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10799421	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916130	1.00[JPT][hapmap]
rs10916150	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128670	0.87[ASN][1000 genomes]
rs1390403	1.00[CEU][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs1495850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2814086	1.00[CEU][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs2819522	0.95[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs2819524	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61833893	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61833894	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6664147	1.00[JPT][hapmap]
rs875284	0.87[ASN][1000 genomes]
rs9628651	0.89[EUR][1000 genomes];0.96[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	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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7549565	ZNF678	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227678000-227680200	Weak transcription	Placenta	Placenta
2	chr1:227678400-227679800	Weak transcription	Right Atrium	heart
3	chr1:227678600-227679800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:227679600-227680400	Enhancers	Fetal Muscle Leg	muscle

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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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