Variant report

Variant	rs11999378
Chromosome Location	chr9:18314777-18314778
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11789735	0.86[EUR][1000 genomes]
rs11790578	0.83[EUR][1000 genomes]
rs11792115	0.88[EUR][1000 genomes]
rs11792893	0.88[EUR][1000 genomes]
rs11793521	0.80[EUR][1000 genomes]
rs17201892	0.88[EUR][1000 genomes]
rs17202079	0.85[EUR][1000 genomes]
rs17791003	0.87[EUR][1000 genomes]
rs4129608	0.84[EUR][1000 genomes]
rs4351499	0.86[EUR][1000 genomes]
rs4366171	0.91[EUR][1000 genomes]
rs4514085	0.91[EUR][1000 genomes]
rs4629974	0.91[EUR][1000 genomes]
rs55802908	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56030218	0.87[EUR][1000 genomes]
rs56067157	0.84[EUR][1000 genomes]
rs56139132	0.80[EUR][1000 genomes]
rs72686842	0.84[EUR][1000 genomes]
rs72686857	0.91[EUR][1000 genomes]
rs7858392	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv892686	chr9:18273100-18328341	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv430001	chr9:18301116-18346392	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv982617	chr9:18303073-18318205	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv892687	chr9:18303691-18430297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv525743	chr9:18312578-18359014	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18305400-18315600	Weak transcription	Gastric	stomach
2	chr9:18306000-18315200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:18306000-18315200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:18313800-18314800	Enhancers	HUVEC	blood vessel
5	chr9:18314400-18314800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:18314400-18314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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