Variant report

Variant	rs16827202
Chromosome Location	chr2:186694044-186694045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1010838	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1010839	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10185794	0.83[EUR][1000 genomes]
rs10188205	0.81[JPT][hapmap]
rs1019428	0.87[ASN][1000 genomes]
rs1019429	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1019430	0.87[ASN][1000 genomes]
rs10490390	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10490391	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10490392	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10803992	0.87[EUR][1000 genomes]
rs10803993	0.87[EUR][1000 genomes]
rs10803994	0.83[ASN][1000 genomes]
rs10931190	0.81[ASN][1000 genomes]
rs10931194	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10931197	0.82[ASN][1000 genomes]
rs10931198	0.87[ASN][1000 genomes]
rs10931200	0.87[ASN][1000 genomes]
rs10931204	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10931205	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10931206	0.80[ASN][1000 genomes]
rs10931208	0.88[ASN][1000 genomes]
rs10931210	0.82[ASN][1000 genomes]
rs1119051	0.84[ASN][1000 genomes]
rs11686997	0.88[ASN][1000 genomes]
rs11695215	0.87[ASN][1000 genomes]
rs11695263	0.84[ASN][1000 genomes]
rs11883784	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11884004	0.83[ASN][1000 genomes]
rs11884071	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs11893024	0.80[CHD][hapmap]
rs11893212	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11894788	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11903585	0.83[ASN][1000 genomes]
rs12053506	0.83[ASN][1000 genomes]
rs12464911	0.83[EUR][1000 genomes]
rs12615117	0.81[ASN][1000 genomes]
rs12618129	0.83[ASN][1000 genomes]
rs12620977	0.82[ASN][1000 genomes]
rs12622494	0.88[ASN][1000 genomes]
rs12623222	0.88[ASN][1000 genomes]
rs1386521	0.81[ASN][1000 genomes]
rs1544710	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1544711	0.83[ASN][1000 genomes]
rs1544712	0.83[ASN][1000 genomes]
rs1544713	0.83[ASN][1000 genomes]
rs16827054	0.84[ASN][1000 genomes]
rs16827102	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16827305	0.82[ASN][1000 genomes]
rs16827310	0.82[ASN][1000 genomes]
rs17228146	0.83[ASN][1000 genomes]
rs17228441	0.83[ASN][1000 genomes]
rs17228483	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs17229201	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs17229222	0.87[ASN][1000 genomes]
rs17813736	0.83[ASN][1000 genomes]
rs17814545	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1862066	0.87[ASN][1000 genomes]
rs1986166	0.87[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2101414	0.82[ASN][1000 genomes]
rs2111710	0.83[ASN][1000 genomes]
rs2112034	0.82[JPT][hapmap]
rs2161035	0.87[ASN][1000 genomes]
rs2161036	0.87[ASN][1000 genomes]
rs2193611	0.81[ASN][1000 genomes]
rs2193821	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287605	0.87[ASN][1000 genomes]
rs2287606	0.87[ASN][1000 genomes]
rs2370396	0.81[ASN][1000 genomes]
rs2370400	0.81[ASN][1000 genomes]
rs2370476	0.83[ASN][1000 genomes]
rs2887761	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2887762	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs36004074	0.87[ASN][1000 genomes]
rs3821022	0.84[ASN][1000 genomes]
rs4334457	0.84[ASN][1000 genomes]
rs4343438	0.83[CHD][hapmap]
rs4349308	0.81[ASN][1000 genomes]
rs4547499	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs55856163	0.83[ASN][1000 genomes]
rs55938253	0.87[ASN][1000 genomes]
rs58148758	0.88[ASN][1000 genomes]
rs58762332	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58798964	0.87[ASN][1000 genomes]
rs59321838	0.82[ASN][1000 genomes]
rs60029104	0.87[ASN][1000 genomes]
rs6434141	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6434144	0.87[ASN][1000 genomes]
rs6705390	0.83[ASN][1000 genomes]
rs6705753	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6722041	0.82[ASN][1000 genomes]
rs6724942	0.82[ASN][1000 genomes]
rs6732973	0.83[ASN][1000 genomes]
rs6733690	0.84[ASN][1000 genomes]
rs6745509	0.86[ASN][1000 genomes]
rs6746722	0.84[ASN][1000 genomes]
rs6753731	0.81[ASN][1000 genomes]
rs6758929	0.84[ASN][1000 genomes]
rs6759616	0.83[ASN][1000 genomes]
rs67690898	0.83[ASN][1000 genomes]
rs72898038	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72905933	0.82[ASN][1000 genomes]
rs72905952	0.82[ASN][1000 genomes]
rs72905954	0.82[ASN][1000 genomes]
rs73035511	0.84[ASN][1000 genomes]
rs7421273	0.80[ASN][1000 genomes]
rs7424780	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7562137	0.82[ASN][1000 genomes]
rs7566166	0.83[ASN][1000 genomes]
rs7566901	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs7570524	0.87[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs7570827	0.83[ASN][1000 genomes]
rs7572909	0.80[ASN][1000 genomes]
rs7573074	0.80[ASN][1000 genomes]
rs7574766	0.83[ASN][1000 genomes]
rs7575226	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7577036	0.80[ASN][1000 genomes]
rs7584637	0.82[ASN][1000 genomes]
rs7584776	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7587008	0.80[ASN][1000 genomes]
rs7587203	0.83[ASN][1000 genomes]
rs7587685	0.83[ASN][1000 genomes]
rs7592890	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7605519	0.83[ASN][1000 genomes]
rs7605884	0.87[ASN][1000 genomes]
rs7607532	0.83[ASN][1000 genomes]
rs7608481	0.88[ASN][1000 genomes]
rs9646802	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs992822	0.87[ASN][1000 genomes]

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	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv1796337	chr2:186618494-186704965	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1797599	chr2:186618494-186882821	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv962091	chr2:186692378-186697441	Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs16827202	AC007966.1	cis	Stomach	GTEx
rs16827202	AC007966.1	cis	Artery Aorta	GTEx
rs16827202	AC007966.1	cis	Esophagus Muscularis	GTEx
rs16827202	AC007966.1	cis	lung	GTEx
rs16827202	AC007966.1	cis	Adipose Subcutaneous	GTEx
rs16827202	AC007966.1	cis	Skin Sun Exposed Lower leg	GTEx
rs16827202	AC007966.1	cis	Heart Left Ventricle	GTEx
rs16827202	AC007966.1	cis	Nerve Tibial	GTEx
rs16827202	AC007966.1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186693200-186694600	Enhancers	Stomach Mucosa	stomach

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