Variant report

Variant	rs7017116
Chromosome Location	chr8:10314217-10314218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10106098	0.81[EUR][1000 genomes]
rs11250016	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546910	0.81[CHD][hapmap]
rs12546919	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1986357	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34873299	0.81[AFR][1000 genomes]
rs36041644	0.81[AFR][1000 genomes]
rs4401911	0.85[AFR][1000 genomes]
rs4483204	0.87[ASN][1000 genomes]
rs4559290	0.88[ASN][1000 genomes]
rs4841337	0.81[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs4841343	0.85[AFR][1000 genomes]
rs4841344	0.85[AFR][1000 genomes]
rs56159799	0.88[AFR][1000 genomes]
rs6989757	0.82[TSI][hapmap]
rs7011215	0.87[ASN][1000 genomes]
rs73203385	0.81[AFR][1000 genomes]
rs7464508	0.81[EUR][1000 genomes]
rs7819930	0.88[ASN][1000 genomes]
rs9792321	0.82[EUR][1000 genomes]
rs9792356	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv890349	chr8:10294330-10355302	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1019090	chr8:10303099-10369061	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv890350	chr8:10305317-10346588	Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7017116	LONRF1	cis	parietal	SCAN
rs7017116	FDFT1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10292200-10321400	Weak transcription	Fetal Brain Male	brain
2	chr8:10304400-10328200	Weak transcription	Fetal Brain Female	brain
3	chr8:10308800-10314800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:10310800-10321000	Weak transcription	Pancreas	Pancrea
5	chr8:10312800-10315000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:10313000-10317400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:10313800-10315200	Enhancers	Stomach Mucosa	stomach
8	chr8:10314000-10314600	Enhancers	Adipose Nuclei	Adipose
9	chr8:10314000-10315400	Enhancers	Fetal Lung	lung
10	chr8:10314200-10314400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:10314200-10314400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr8:10314200-10314600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:10314200-10314600	Enhancers	Esophagus	oesophagus
14	chr8:10314200-10314600	Enhancers	K562	blood
15	chr8:10314200-10314800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:10314200-10314800	Enhancers	Fetal Stomach	stomach

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