Variant report

Variant	rs7863925
Chromosome Location	chr9:16456242-16456243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16934614	0.86[CHB][hapmap]
rs16934619	0.86[CHB][hapmap]
rs4545191	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7042237	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.98[ASN][1000 genomes]
rs7850919	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2761269	chr9:16454393-16462098	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7863925	RUFY1	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16421800-16460400	Weak transcription	Aorta	Aorta
2	chr9:16437400-16459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:16438800-16458800	Weak transcription	HSMM	muscle
4	chr9:16446000-16458800	Weak transcription	NHLF	lung
5	chr9:16446400-16458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:16447000-16457600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:16447000-16458400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:16449200-16459200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:16451000-16456400	Weak transcription	Ovary	ovary
10	chr9:16451000-16458000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:16452200-16457800	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:16452200-16458600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:16453800-16457400	Weak transcription	GM12878-XiMat	blood
14	chr9:16453800-16458600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:16455800-16457800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:16456000-16456600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:16456200-16456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:16456200-16456400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:16456200-16456600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:16456200-16456800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:16456200-16456800	Enhancers	HUES64 Cell Line	embryonic stem cell

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