Variant report

Variant	rs1370656
Chromosome Location	chr2:178607998-178607999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11684634	0.82[MKK][hapmap];0.80[AFR][1000 genomes]
rs12990471	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13017254	1.00[ASN][1000 genomes]
rs13032794	1.00[CHB][hapmap]
rs1344925	0.81[MKK][hapmap]
rs1438048	0.81[MKK][hapmap]
rs1438049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561320	0.80[AFR][1000 genomes]
rs17400121	1.00[CHB][hapmap]
rs17400834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401293	1.00[CHB][hapmap]
rs1866208	0.80[AFR][1000 genomes]
rs1866209	0.81[MKK][hapmap];0.80[AFR][1000 genomes]
rs1986843	1.00[CHB][hapmap]
rs34543540	1.00[ASN][1000 genomes]
rs4893839	0.81[MKK][hapmap];0.80[AFR][1000 genomes]
rs6756240	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs998059	0.81[MKK][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1370656	PDE11A	cis	parietal	SCAN
rs1370656	LOC100130691	cis	cerebellum	SCAN
rs1370656	EVX2	cis	parietal	SCAN
rs1370656	PDE11A	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178597800-178610200	Weak transcription	Adipose Nuclei	Adipose
2	chr2:178603400-178616000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:178604600-178609400	Enhancers	Fetal Kidney	kidney
4	chr2:178606000-178617800	Weak transcription	Ovary	ovary
5	chr2:178606600-178612000	Weak transcription	K562	blood
6	chr2:178607400-178608200	Enhancers	Thymus	Thymus
7	chr2:178607400-178614800	Weak transcription	Fetal Lung	lung
8	chr2:178607600-178610200	Weak transcription	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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