Variant report

Variant	rs6016791
Chromosome Location	chr20:41058986-41058987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11700137	0.91[CHD][hapmap]
rs2425492	0.83[ASN][1000 genomes]
rs2425498	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs4812599	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6016785	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs6030212	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6030218	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6030226	0.90[CEU][hapmap];0.94[CHB][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6030229	0.97[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs6030232	0.81[JPT][hapmap]
rs6030236	0.88[ASN][1000 genomes]
rs6030238	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6030239	0.88[CHD][hapmap]
rs978456	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978457	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6016791	DBNDD2	cis	parietal	SCAN
rs6016791	JPH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41042000-41070000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41058000-41060000	Enhancers	Adipose Nuclei	Adipose
3	chr20:41058200-41059400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:41058400-41059200	Enhancers	Fetal Muscle Leg	muscle
5	chr20:41058800-41059600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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