Variant report

Variant	rs12118646
Chromosome Location	chr1:180598852-180598853
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10914096	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1339768	1.00[CHB][hapmap]
rs1970404	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2331626	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3002114	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3002117	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3002123	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3753202	0.95[ASN][1000 genomes]
rs3819951	0.91[ASN][1000 genomes]
rs3819953	0.97[ASN][1000 genomes]
rs3843278	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3845406	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3856058	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4651073	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6661105	0.91[CHB][hapmap]
rs7541650	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];0.88[TSI][hapmap]
rs9425881	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs9970145	0.91[CHB][hapmap]
rs9970363	0.91[CHB][hapmap]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180581800-180600600	Weak transcription	Fetal Heart	heart
2	chr1:180593200-180601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:180593400-180599400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:180593400-180600200	Weak transcription	K562	blood
5	chr1:180593600-180599600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:180597400-180599200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:180598000-180600400	Weak transcription	Spleen	Spleen

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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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