Variant report

Variant	rs331503
Chromosome Location	chr11:4495028-4495029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10768026	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10836102	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11032345	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11032351	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11032354	0.84[EUR][1000 genomes]
rs11032355	0.84[EUR][1000 genomes]
rs11032359	0.84[EUR][1000 genomes]
rs11032361	0.84[EUR][1000 genomes]
rs11032378	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11032381	0.96[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.84[EUR][1000 genomes]
rs11032407	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12226120	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12788189	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1292642	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1864498	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1864499	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs189118	0.83[EUR][1000 genomes]
rs193063	0.83[EUR][1000 genomes]
rs2278170	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278171	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278172	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278173	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2554944	0.93[EUR][1000 genomes]
rs2566264	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2915038	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs331502	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs331523	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs331524	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331525	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331526	0.82[EUR][1000 genomes]
rs331527	0.92[EUR][1000 genomes]
rs331529	0.91[EUR][1000 genomes]
rs331530	0.90[EUR][1000 genomes]
rs331531	0.91[EUR][1000 genomes]
rs331532	0.93[EUR][1000 genomes]
rs331533	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs331534	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35390334	0.84[EUR][1000 genomes]
rs55940502	0.84[EUR][1000 genomes]
rs890416	0.96[CEU][hapmap];0.93[GIH][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs890417	0.96[CEU][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs890418	0.96[CEU][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9633900	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9633905	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9633906	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv1814887	chr11:4221216-4510188	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv427881	chr11:4221216-4510188	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv932141	chr11:4326065-4531854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv896908	chr11:4367196-4552102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
10	nsv553159	chr11:4389110-4599221	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
12	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
13	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv553160	chr11:4404192-4589567	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv553161	chr11:4404192-4589780	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv1040278	chr11:4440162-4530349	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv1039640	chr11:4476167-4541813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv521561	chr11:4476699-4536230	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv523709	chr11:4476699-4540077	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1038290	chr11:4491101-4530349	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs331503	OR52L1	cis	parietal	SCAN
rs331503	C11orf21	cis	parietal	SCAN
rs331503	MUC2	cis	parietal	SCAN
rs331503	OR51B4	cis	parietal	SCAN
rs331503	MRGPRE	cis	cerebellum	SCAN
rs331503	OR52K3P	cis	Whole Blood	GTEx
rs331503	CHRNA10	cis	cerebellum	SCAN
rs331503	OSBPL5	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4488000-4496000	Weak transcription	Gastric	stomach
2	chr11:4488600-4501800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:4493000-4495600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:4493000-4495800	Weak transcription	Monocytes-CD14+_RO01746	blood

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