Variant report

Variant	rs57996188
Chromosome Location	chr7:106746428-106746429
allele	G/T
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:4)

rs_ID	r²[population]
rs17153927	0.80[AFR][1000 genomes]
rs57687942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv608072	chr7:106718347-106753248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106741600-106747400	Enhancers	Placenta	Placenta
2	chr7:106742000-106747200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:106743800-106747200	Enhancers	Adipose Nuclei	Adipose
4	chr7:106744200-106755800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:106744400-106746600	Enhancers	Fetal Heart	heart
6	chr7:106745400-106747200	Genic enhancers	K562	blood
7	chr7:106745800-106747200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:106746000-106746600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:106746000-106746600	Enhancers	Right Atrium	heart
10	chr7:106746400-106747200	Strong transcription	Fetal Brain Female	brain
11	chr7:106746400-106749200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:106746400-106759000	Weak transcription	Left Ventricle	heart

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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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