Variant report

Variant	rs4798699
Chromosome Location	chr18:8869089-8869090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17408774	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4133048	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4420597	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4797335	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4797336	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4797337	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4797338	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798698	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4798702	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798711	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798712	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798713	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798714	0.90[EUR][1000 genomes]
rs4798715	0.87[AMR][1000 genomes];0.90[EUR][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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3371303	chr18:8867052-8871150	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4798699	LOC285733	trans	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8866000-8869800	Weak transcription	NHEK	skin
2	chr18:8866200-8869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:8868000-8869600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:8868200-8869200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:8868400-8871200	Enhancers	HSMMtube	muscle
6	chr18:8868800-8869200	Enhancers	Fetal Muscle Trunk	muscle
7	chr18:8869000-8869200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr18:8869000-8878400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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