Variant report

Variant	rs72870631
Chromosome Location	chr6:55767512-55767513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1868032	0.87[EUR][1000 genomes]
rs1900528	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2022127	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4130775	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4552718	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715569	0.81[EUR][1000 genomes]
rs56232118	0.82[EUR][1000 genomes]
rs6459119	0.82[EUR][1000 genomes]
rs6459120	0.81[EUR][1000 genomes]
rs72870667	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72872205	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9464306	0.83[EUR][1000 genomes]
rs9475457	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1024174	chr6:55713889-55829936	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1029301	chr6:55713889-55834480	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830665	chr6:55755560-55920219	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55763400-55767600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:55763800-55767800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:55766200-55768200	Enhancers	Fetal Intestine Large	intestine
4	chr6:55766200-55768200	Enhancers	Hela-S3	cervix
5	chr6:55766200-55768400	Enhancers	Fetal Intestine Small	intestine
6	chr6:55766600-55768200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:55766800-55768400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:55767000-55767600	Enhancers	A549	lung
9	chr6:55767200-55768200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:55767400-55768000	Enhancers	HUES64 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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