Variant report

Variant	rs6854885
Chromosome Location	chr4:94667220-94667221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10007001	0.80[ASN][1000 genomes]
rs11941949	0.87[AMR][1000 genomes]
rs12505204	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13117830	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13129238	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36108466	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4693340	0.87[AMR][1000 genomes]
rs66471066	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66548721	0.83[AMR][1000 genomes]
rs6850113	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008055	chr4:94169131-95030074	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931979	chr4:94289958-95121723	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv821636	chr4:94439636-95116590	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1013018	chr4:94526959-94735442	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94654400-94669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:94666200-94668000	Enhancers	Fetal Intestine Small	intestine
3	chr4:94666200-94668600	Enhancers	Fetal Intestine Large	intestine
4	chr4:94666400-94667400	Enhancers	Fetal Lung	lung
5	chr4:94666400-94670000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:94666600-94667400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:94666600-94667400	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:94666600-94669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:94666800-94667400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:94667000-94667800	Enhancers	GM12878-XiMat	blood
11	chr4:94667000-94669000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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