Variant report

Variant	rs215239
Chromosome Location	chr7:83239755-83239756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs215251	1.00[AFR][1000 genomes]
rs215290	1.00[AFR][1000 genomes]
rs302097	0.83[AFR][1000 genomes]
rs302098	0.83[AFR][1000 genomes]
rs547587	0.83[AFR][1000 genomes]
rs559256	0.83[AFR][1000 genomes]
rs587584	1.00[AFR][1000 genomes]
rs594353	1.00[AFR][1000 genomes]
rs595225	0.86[AFR][1000 genomes]
rs616872	0.83[AFR][1000 genomes]
rs617562	1.00[AFR][1000 genomes]
rs629816	0.83[AFR][1000 genomes]
rs678424	1.00[AFR][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	nsv949348	chr7:82791439-83250118	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1847292	chr7:83167328-83293269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1017248	chr7:83189888-83385765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83224600-83240000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83237200-83239800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:83237600-83241600	Weak transcription	Fetal Brain Male	brain
4	chr7:83238200-83239800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:83238800-83239800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:83239000-83241800	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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