Variant report

Variant	rs6478027
Chromosome Location	chr9:116410383-116410384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2622267	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs7864770	0.90[CHB][hapmap];0.86[CHD][hapmap];0.84[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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv893749	chr9:116378759-116439749	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116401800-116410400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:116406400-116411400	Weak transcription	HUVEC	blood vessel
3	chr9:116407000-116413600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:116407800-116412600	Weak transcription	Fetal Kidney	kidney
5	chr9:116408200-116412600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:116408600-116411200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:116409000-116412400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:116409400-116410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:116409400-116412400	Enhancers	HepG2	liver
10	chr9:116409600-116411200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:116410000-116411000	Enhancers	Fetal Intestine Small	intestine
12	chr9:116410200-116410800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:116410200-116410800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr9:116410200-116410800	Enhancers	Fetal Intestine Large	intestine
15	chr9:116410200-116412000	Enhancers	Right Atrium	heart
16	chr9:116410200-116412600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:116410200-116412800	Enhancers	Placenta	Placenta
18	chr9:116410200-116413400	Enhancers	Fetal Heart	heart
19	chr9:116410200-116413400	Enhancers	NHDF-Ad	bronchial

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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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