Variant report

Variant	rs1005270
Chromosome Location	chr18:11750822-11750823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11876935	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12608242	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16976627	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16976632	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs16976642	1.00[MKK][hapmap]
rs72865259	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7359728	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs8087789	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs8090320	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9951752	0.89[CHB][hapmap];0.82[JPT][hapmap]

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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1005270	CHMP1B	cis	parietal	SCAN
rs1005270	RNMT	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11747600-11751200	Weak transcription	Brain Anterior Caudate	brain
2	chr18:11750400-11751000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:11750400-11751200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:11750600-11751000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:11750600-11751400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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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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