Variant report

Variant	rs4728044
Chromosome Location	chr7:79903870-79903871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11981813	0.91[ASN][1000 genomes]
rs306691	0.85[ASN][1000 genomes]
rs306692	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs306694	0.94[ASN][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4728044	GNAI1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79898800-79911000	Weak transcription	Small Intestine	intestine
2	chr7:79901600-79908000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:79901800-79905600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:79902400-79906400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:79902600-79905400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:79903000-79904200	Weak transcription	Hela-S3	cervix
7	chr7:79903000-79904400	Weak transcription	A549	lung
8	chr7:79903400-79904400	Weak transcription	NHLF	lung
9	chr7:79903400-79906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:79903400-79907200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:79903600-79906000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:79903600-79906000	Weak transcription	NHEK	skin
13	chr7:79903600-79906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:79903600-79906600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:79903600-79906600	Weak transcription	Adipose Nuclei	Adipose

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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