Variant report

Variant	rs6478134
Chromosome Location	chr9:117910705-117910706
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10982567	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1335333	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414137	0.82[AFR][1000 genomes]
rs1537720	0.82[AFR][1000 genomes]
rs4978621	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979505	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60632414	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478133	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7033521	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7034038	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr9:117908000-117912000	Enhancers	Colon Smooth Muscle	Colon
2	chr9:117908400-117910800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr9:117908400-117910800	Enhancers	Fetal Stomach	stomach
4	chr9:117908400-117912200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:117909800-117913200	Weak transcription	Aorta	Aorta
6	chr9:117910000-117913400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:117910000-117918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:117910000-117918800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:117910200-117911000	Enhancers	Stomach Smooth Muscle	stomach
10	chr9:117910400-117912000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:117910400-117913600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:117910400-117918800	Weak transcription	NHLF	lung
13	chr9:117910600-117911800	Enhancers	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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