Variant report

Variant	rs9816189
Chromosome Location	chr3:162287573-162287574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1026691	1.00[CHB][hapmap]
rs1026693	1.00[CHB][hapmap]
rs1115913	1.00[ASN][1000 genomes]
rs11712189	1.00[ASN][1000 genomes]
rs12696157	1.00[ASN][1000 genomes]
rs13314288	1.00[ASN][1000 genomes]
rs13316530	1.00[ASN][1000 genomes]
rs13318622	1.00[ASN][1000 genomes]
rs13327474	1.00[ASN][1000 genomes]
rs1478170	1.00[ASN][1000 genomes]
rs1478171	1.00[ASN][1000 genomes]
rs16850701	1.00[ASN][1000 genomes]
rs1812538	1.00[ASN][1000 genomes]
rs1904102	1.00[ASN][1000 genomes]
rs1960377	1.00[ASN][1000 genomes]
rs2045861	1.00[ASN][1000 genomes]
rs2045862	1.00[ASN][1000 genomes]
rs2086091	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2086092	1.00[ASN][1000 genomes]
rs2086093	1.00[ASN][1000 genomes]
rs2086094	1.00[ASN][1000 genomes]
rs2318633	1.00[ASN][1000 genomes]
rs2318634	1.00[ASN][1000 genomes]
rs6806429	1.00[ASN][1000 genomes]
rs6806463	1.00[ASN][1000 genomes]
rs7427103	1.00[ASN][1000 genomes]
rs7427749	1.00[ASN][1000 genomes]
rs7646114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9290127	1.00[ASN][1000 genomes]
rs9290128	0.86[EUR][1000 genomes]
rs931049	1.00[ASN][1000 genomes]
rs9812760	1.00[ASN][1000 genomes]
rs9826188	1.00[ASN][1000 genomes]
rs9826391	1.00[ASN][1000 genomes]
rs9828812	1.00[ASN][1000 genomes]
rs9828944	1.00[ASN][1000 genomes]
rs9831271	1.00[ASN][1000 genomes]
rs9834927	1.00[ASN][1000 genomes]
rs9835417	1.00[ASN][1000 genomes]
rs9836512	1.00[ASN][1000 genomes]
rs9839765	1.00[CHB][hapmap]
rs9841809	1.00[ASN][1000 genomes]
rs9847771	1.00[ASN][1000 genomes]
rs9853295	1.00[ASN][1000 genomes]
rs9853307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859293	1.00[CHB][hapmap]
rs9866056	1.00[ASN][1000 genomes]
rs9874970	1.00[ASN][1000 genomes]
rs9883974	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877721	chr3:161878713-162303276	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1006802	chr3:161921063-162599175	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv877735	chr3:162123179-162380954	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv428424	chr3:162145988-163033943	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1012160	chr3:162182166-162540478	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1000912	chr3:162186601-162311128	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv592201	chr3:162188625-163142162	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv829775	chr3:162211618-162406402	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv470994	chr3:162217993-162945834	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv877755	chr3:162218849-162386891	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv877756	chr3:162218849-162391801	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv877757	chr3:162226534-162391801	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1005142	chr3:162284967-162447818	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv877758	chr3:162287573-162521339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9816189	ARL14	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162278800-162291600	Weak transcription	Dnd41	blood
2	chr3:162287000-162287600	Enhancers	HepG2	liver
3	chr3:162287000-162287800	Enhancers	Fetal Lung	lung
4	chr3:162287000-162287800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:162287000-162288000	Enhancers	Fetal Intestine Large	intestine
6	chr3:162287200-162288000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr3:162287400-162287600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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