Variant report

Variant	rs73499694
Chromosome Location	chr9:102630489-102630490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10429611	1.00[EUR][1000 genomes]
rs7020312	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7035044	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73499698	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73499702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501510	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501511	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501513	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7850043	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102610400-102631200	Weak transcription	NHLF	lung
2	chr9:102610400-102644000	Weak transcription	Aorta	Aorta
3	chr9:102615400-102644000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:102622600-102635600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:102626200-102632400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:102627000-102630800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:102627000-102631000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:102627000-102632600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:102627200-102630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:102627400-102633200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:102628200-102636200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:102629000-102630600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:102629200-102631000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:102629800-102635600	Weak transcription	Hela-S3	cervix
15	chr9:102630000-102631400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr9:102630000-102633200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:102630200-102632400	Weak transcription	NH-A	brain
18	chr9:102630400-102630800	Enhancers	GM12878-XiMat	blood

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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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