Variant report

Variant	rs12021518
Chromosome Location	chr1:215884113-215884114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11120599	0.84[ASN][1000 genomes]
rs11120614	0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11120616	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12058230	0.85[ASN][1000 genomes]
rs12123457	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs1418693	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1418696	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17025255	0.85[CHB][hapmap]
rs2797239	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs2797245	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2797246	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2820680	0.84[ASN][1000 genomes]
rs2820682	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2820695	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4449992	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4638090	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6656265	0.85[ASN][1000 genomes]
rs6656366	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs6674308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv873171	chr1:215825167-215925167	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215882000-215884200	Enhancers	Liver	Liver
2	chr1:215883800-215884200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:215883800-215884200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:215884000-215884200	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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