Variant report

Variant	rs304733
Chromosome Location	chr7:79953523-79953524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs304734	0.98[EUR][1000 genomes]
rs304736	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs304758	0.82[CEU][hapmap]
rs37923	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs37924	0.96[EUR][1000 genomes]
rs37925	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs37927	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37928	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4731338	1.00[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79947800-79955400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:79947800-79956800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:79952400-79954400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:79952600-79953800	Enhancers	NH-A	brain
5	chr7:79952600-79954400	Enhancers	NHEK	skin
6	chr7:79952800-79953800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:79952800-79954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:79952800-79954400	Enhancers	HMEC	breast
9	chr7:79953000-79953800	Enhancers	HSMM	muscle
10	chr7:79953200-79953800	Enhancers	HUVEC	blood vessel
11	chr7:79953400-79953800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:79953400-79953800	Enhancers	NHLF	lung

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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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