Variant report

Variant	rs304758
Chromosome Location	chr7:79947199-79947200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs304734	0.84[AMR][1000 genomes]
rs37920	0.82[CEU][hapmap];0.85[AMR][1000 genomes]
rs37924	0.84[AMR][1000 genomes]
rs37925	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs615531	0.92[AMR][1000 genomes]
rs626012	0.92[AMR][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	chr7:79937200-79949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:79942800-79952800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:79943000-79947200	Weak transcription	HMEC	breast
4	chr7:79943800-79947600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:79943800-79952600	Weak transcription	NHEK	skin
6	chr7:79945800-79947600	Enhancers	Fetal Intestine Large	intestine
7	chr7:79946000-79947400	Enhancers	Fetal Intestine Small	intestine
8	chr7:79946400-79947800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:79946600-79947600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:79946800-79947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:79946800-79947800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:79947000-79947400	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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