Variant report

Variant	rs551114
Chromosome Location	chr3:54739910-54739911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11915214	0.90[MKK][hapmap]
rs505732	0.86[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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs551114	STAB1	cis	parietal	SCAN
rs551114	VPRBP	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54713600-54743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54737000-54740600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:54737200-54740200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:54737600-54742200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:54737800-54741800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:54738000-54740000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:54738000-54742400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:54738000-54743400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:54738200-54743600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:54738400-54741600	Enhancers	Fetal Muscle Leg	muscle
11	chr3:54738600-54741800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:54739000-54741600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:54739200-54740200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:54739600-54740000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:54739600-54740800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:54739600-54741800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:54739800-54740000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:54739800-54740200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:54739800-54742200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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