Variant report

Variant	rs594711
Chromosome Location	chr11:120992188-120992189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10502247	0.90[MEX][hapmap]
rs10892674	0.90[MEX][hapmap]
rs600937	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61013776	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628721	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs642548	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs667125	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105712	0.90[MEX][hapmap]

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	nsv524	chr11:120963503-121008167	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs594711	UBE4A	cis	parietal	SCAN
rs594711	BUD13	cis	parietal	SCAN
rs594711	SCN4B	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120975800-121005600	Weak transcription	Right Ventricle	heart
2	chr11:120976600-120992200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:120976600-120998400	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120980600-120998400	Weak transcription	Fetal Brain Female	brain
5	chr11:120981400-120992400	Weak transcription	Brain Germinal Matrix	brain
6	chr11:120983400-120993400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:120983800-120992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:120983800-120993200	Weak transcription	Fetal Brain Male	brain
9	chr11:120984400-120993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:120991800-120998600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:120992000-120992200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120992000-120992600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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