Variant report

Variant	rs1416965
Chromosome Location	chr1:196486146-196486147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10754189	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10922074	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10922076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339952	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1416964	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1538688	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428342	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541165	0.84[AFR][1000 genomes]
rs9782933	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196480800-196504800	Weak transcription	Liver	Liver
2	chr1:196485000-196486200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:196485000-196486200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:196485000-196486400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:196485200-196486200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:196485200-196486400	Flanking Active TSS	K562	blood
7	chr1:196485800-196486600	Weak transcription	Ovary	ovary
8	chr1:196486000-196486200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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