Variant report

Variant	rs578809
Chromosome Location	chr9:14076289-14076290
allele	A/C
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:15)

rs_ID	r²[population]
rs10738353	0.86[JPT][hapmap]
rs10810092	1.00[JPT][hapmap]
rs12236011	0.86[JPT][hapmap]
rs1689281	1.00[EUR][1000 genomes]
rs2307079	0.86[JPT][hapmap]
rs475732	0.81[ASN][1000 genomes]
rs548824	0.85[EUR][1000 genomes]
rs576216	0.82[JPT][hapmap]
rs578720	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579735	0.89[EUR][1000 genomes]
rs6474815	0.92[AFR][1000 genomes]
rs7047932	0.91[AFR][1000 genomes]
rs7858	0.91[EUR][1000 genomes]
rs7863561	0.83[YRI][hapmap]
rs7863702	0.83[YRI][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14071600-14077000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:14071800-14078800	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:14073400-14092600	Weak transcription	Aorta	Aorta
4	chr9:14074800-14090400	Weak transcription	Adipose Nuclei	Adipose
5	chr9:14075400-14116000	Weak transcription	Gastric	stomach
6	chr9:14075600-14078800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:14075600-14082800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:14075800-14079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:14075800-14080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:14076000-14079600	Weak transcription	HMEC	breast
11	chr9:14076000-14079800	Weak transcription	NHEK	skin
12	chr9:14076000-14080600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:14076000-14083600	Weak transcription	Fetal Heart	heart

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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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