Variant report

Variant	rs6474812
Chromosome Location	chr9:14072805-14072806
allele	C/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:16)

rs_ID	r²[population]
rs1005916	0.91[AFR][1000 genomes]
rs16931314	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2078463	1.00[MEX][hapmap]
rs57887191	0.89[AFR][1000 genomes]
rs6474810	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6474811	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6474813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6474814	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7031859	1.00[MEX][hapmap]
rs7036959	1.00[MEX][hapmap]
rs73407784	0.86[AFR][1000 genomes]
rs7859099	0.87[AFR][1000 genomes]
rs7859504	0.89[AFR][1000 genomes]
rs7860845	1.00[MEX][hapmap]
rs7863561	1.00[MEX][hapmap]
rs7863702	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr9:14063400-14074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:14071600-14077000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:14071800-14078800	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:14072600-14073000	Enhancers	Liver	Liver
5	chr9:14072800-14073000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:14072800-14073200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr9:14072800-14073400	Enhancers	Aorta	Aorta
8	chr9:14072800-14073400	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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