Variant report

Variant	rs57790116
Chromosome Location	chr7:99427488-99427489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs45504794	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45577236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61034029	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr7:99419400-99432200	Enhancers	Fetal Intestine Small	intestine
2	chr7:99419600-99432000	Enhancers	Fetal Intestine Large	intestine
3	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:99424200-99430400	Enhancers	K562	blood
5	chr7:99424600-99429200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:99426200-99427800	Flanking Active TSS	Liver	Liver
7	chr7:99426400-99427800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:99426600-99427600	Enhancers	Adipose Nuclei	Adipose
9	chr7:99426600-99427600	Enhancers	Fetal Kidney	kidney
10	chr7:99426600-99429200	Weak transcription	Small Intestine	intestine
11	chr7:99426800-99428400	Enhancers	Pancreas	Pancrea
12	chr7:99427000-99429600	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:99427200-99427600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:99427200-99428800	Enhancers	Stomach Mucosa	stomach
15	chr7:99427400-99427600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:99427400-99427600	Flanking Active TSS	HepG2	liver
17	chr7:99427400-99427800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:99427400-99427800	Enhancers	NHEK	skin
19	chr7:99427400-99429200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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