Variant report

Variant	rs2208692
Chromosome Location	chr1:186133290-186133291
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10911836	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11582026	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123389	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16825040	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2383457	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56138834	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56267286	0.83[EUR][1000 genomes]
rs6425021	0.83[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6673026	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7549613	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7552106	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7554865	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7554872	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs911743	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2208692	NMNAT2	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186113800-186135800	Weak transcription	Ovary	ovary
3	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
4	chr1:186115400-186135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186116400-186135400	Weak transcription	Aorta	Aorta
6	chr1:186116600-186135400	Weak transcription	Lung	lung
7	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung
8	chr1:186120000-186135200	Weak transcription	Liver	Liver
9	chr1:186122200-186135600	Weak transcription	K562	blood
10	chr1:186123800-186134000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:186132800-186134000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:186133000-186134400	Weak transcription	NH-A	brain
13	chr1:186133200-186137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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