Variant report

Variant	rs1689281
Chromosome Location	chr9:14075865-14075866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10511590	1.00[ASN][1000 genomes]
rs13284590	1.00[ASN][1000 genomes]
rs13298724	1.00[ASN][1000 genomes]
rs16931379	1.00[ASN][1000 genomes]
rs1799675	1.00[ASN][1000 genomes]
rs35381921	1.00[ASN][1000 genomes]
rs490911	1.00[ASN][1000 genomes]
rs542811	1.00[ASN][1000 genomes]
rs543458	1.00[ASN][1000 genomes]
rs548824	0.85[EUR][1000 genomes]
rs551272	1.00[ASN][1000 genomes]
rs551362	1.00[ASN][1000 genomes]
rs552338	1.00[ASN][1000 genomes]
rs578720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs578809	1.00[EUR][1000 genomes]
rs579735	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs693566	1.00[ASN][1000 genomes]
rs7858	0.91[EUR][1000 genomes]

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	chr9:14074000-14076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:14074000-14076000	Enhancers	HMEC	breast
6	chr9:14074000-14076000	Enhancers	NHEK	skin
7	chr9:14074800-14090400	Weak transcription	Adipose Nuclei	Adipose
8	chr9:14075400-14076000	Enhancers	Fetal Heart	heart
9	chr9:14075400-14116000	Weak transcription	Gastric	stomach
10	chr9:14075600-14078800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:14075600-14082800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:14075800-14079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:14075800-14080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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