Variant report

Variant	rs16933684
Chromosome Location	chr11:16952482-16952483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10741713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024090	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418111	0.88[JPT][hapmap]
rs16933675	0.88[CHD][hapmap];0.88[JPT][hapmap]
rs16933680	0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16933682	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16933683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177551	0.81[ASN][1000 genomes]
rs177554	0.83[ASN][1000 genomes]
rs177559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177560	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs177563	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860024	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1860025	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2057788	0.88[JPT][hapmap]
rs2108603	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2190752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2215086	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353367	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2883150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35005405	0.93[ASN][1000 genomes]
rs35109048	0.90[ASN][1000 genomes]
rs369457	0.88[JPT][hapmap]
rs371905	0.88[JPT][hapmap]
rs381815	0.94[JPT][hapmap]
rs387849	0.88[JPT][hapmap]
rs388968	0.86[JPT][hapmap]
rs389967	0.82[JPT][hapmap]
rs390974	0.88[JPT][hapmap]
rs393633	0.94[JPT][hapmap]
rs397343	0.88[JPT][hapmap]
rs397373	0.93[JPT][hapmap]
rs400085	0.88[JPT][hapmap]
rs400458	0.88[JPT][hapmap]
rs401820	0.88[JPT][hapmap]
rs402982	0.82[JPT][hapmap]
rs406890	0.88[JPT][hapmap]
rs407354	0.94[JPT][hapmap]
rs409354	0.84[CHD][hapmap]
rs414219	0.88[CHD][hapmap];0.94[JPT][hapmap]
rs414992	0.94[JPT][hapmap]
rs417406	0.82[JPT][hapmap]
rs420975	0.88[JPT][hapmap]
rs425325	0.94[JPT][hapmap]
rs428840	0.93[JPT][hapmap]
rs428933	0.88[JPT][hapmap]
rs430211	0.88[JPT][hapmap]
rs431208	0.88[JPT][hapmap]
rs432046	0.88[CHD][hapmap];0.94[JPT][hapmap]
rs433212	0.88[JPT][hapmap]
rs433225	0.88[JPT][hapmap]
rs434761	0.88[JPT][hapmap]
rs434899	0.87[JPT][hapmap]
rs435206	0.93[JPT][hapmap]
rs440212	0.88[JPT][hapmap]
rs445146	0.87[JPT][hapmap]
rs445205	0.88[CHD][hapmap];0.94[JPT][hapmap]
rs446518	0.93[JPT][hapmap]
rs448671	0.85[CHD][hapmap];0.94[JPT][hapmap]
rs450828	0.88[JPT][hapmap]
rs452414	0.88[JPT][hapmap]
rs452745	0.88[JPT][hapmap]
rs454869	0.88[JPT][hapmap]
rs4756875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757445	0.90[ASN][1000 genomes]
rs4757449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4757452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757454	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4757456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4757457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6486326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6486329	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7396552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7481080	0.83[JPT][hapmap]
rs758402	0.83[ASN][1000 genomes]
rs7924696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7926335	0.88[JPT][hapmap]
rs7929137	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7939987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs982811	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7689	chr11:16945953-16990852	Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16933684	SPTY2D1	cis	cerebellum	SCAN
rs16933684	ABCC8	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16947600-16955400	Weak transcription	Gastric	stomach
2	chr11:16947800-16954200	Weak transcription	Pancreas	Pancrea
3	chr11:16948000-16954200	Weak transcription	Ovary	ovary
4	chr11:16948200-16959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:16948400-16967800	Weak transcription	HepG2	liver
6	chr11:16948600-16954800	Weak transcription	Left Ventricle	heart
7	chr11:16948600-16954800	Weak transcription	Right Atrium	heart
8	chr11:16948600-16955400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:16948600-16967800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:16949400-16957400	Weak transcription	A549	lung
11	chr11:16949800-16954200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:16949800-16954600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:16950200-16954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:16951200-16955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:16951200-16958000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:16951600-16954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:16951800-16957000	Strong transcription	Fetal Intestine Small	intestine
18	chr11:16952200-16954600	Enhancers	Fetal Heart	heart

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