Variant report

Variant	rs11173337
Chromosome Location	chr12:60531507-60531508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10506408	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10877392	0.94[ASN][1000 genomes]
rs11173327	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11173328	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11173329	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11173336	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11173339	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11173340	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11173341	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11173343	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11173345	0.98[ASN][1000 genomes]
rs11173346	0.98[ASN][1000 genomes]
rs11173351	0.92[ASN][1000 genomes]
rs11173359	0.89[ASN][1000 genomes]
rs11173361	0.89[ASN][1000 genomes]
rs11173367	0.83[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs11173386	0.81[ASN][1000 genomes]
rs12226976	0.90[ASN][1000 genomes]
rs12227514	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228823	0.80[ASN][1000 genomes]
rs12230817	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12231312	0.98[ASN][1000 genomes]
rs12231943	0.80[ASN][1000 genomes]
rs1319775	0.83[ASN][1000 genomes]
rs1493325	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1504442	0.81[ASN][1000 genomes]
rs1504443	0.81[ASN][1000 genomes]
rs17595010	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17595325	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17595367	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17602381	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17665306	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4143650	0.83[ASN][1000 genomes]
rs4265627	0.85[ASN][1000 genomes]
rs4417318	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4454757	0.98[ASN][1000 genomes]
rs4491264	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4567505	0.98[ASN][1000 genomes]
rs4758743	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4758744	0.97[ASN][1000 genomes]
rs4758745	0.96[ASN][1000 genomes]
rs4758859	0.80[ASN][1000 genomes]
rs55661627	0.89[ASN][1000 genomes]
rs61127975	0.93[ASN][1000 genomes]
rs61487567	0.80[ASN][1000 genomes]
rs61922947	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61922949	0.94[ASN][1000 genomes]
rs61922950	0.94[ASN][1000 genomes]
rs61923065	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61923066	0.98[ASN][1000 genomes]
rs61923067	0.97[ASN][1000 genomes]
rs61923074	0.89[ASN][1000 genomes]
rs61923092	0.85[ASN][1000 genomes]
rs61923093	0.82[ASN][1000 genomes]
rs61923121	0.83[ASN][1000 genomes]
rs61923124	0.81[ASN][1000 genomes]
rs61923127	0.81[ASN][1000 genomes]
rs61923129	0.81[ASN][1000 genomes]
rs61923130	0.80[ASN][1000 genomes]
rs61923132	0.80[ASN][1000 genomes]
rs61925366	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6581305	0.83[ASN][1000 genomes]
rs66587505	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7131926	0.88[ASN][1000 genomes]
rs7134267	0.80[ASN][1000 genomes]
rs72648145	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7310323	0.95[ASN][1000 genomes]
rs7314355	0.95[ASN][1000 genomes]
rs7957100	0.81[ASN][1000 genomes]
rs7973882	0.97[ASN][1000 genomes]
rs7977642	0.89[ASN][1000 genomes]
rs7979069	0.95[ASN][1000 genomes]
rs8181648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs959645	0.81[ASN][1000 genomes]
rs9634280	0.81[ASN][1000 genomes]
rs9634281	0.81[ASN][1000 genomes]
rs9668893	0.96[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	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv511495	chr12:60518599-60541932	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv559107	chr12:60518842-60540108	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv559108	chr12:60518842-60548334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559118	chr12:60522630-60531507	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	nsv559119	chr12:60522630-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1793962	chr12:60522630-60541932	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1846332	chr12:60522725-60541932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1851665	chr12:60522725-60549171	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv559129	chr12:60522829-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv559136	chr12:60523425-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3389645	chr12:60530835-60533233	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11173337	COQ10A	cis	parietal	SCAN
rs11173337	ITGA7	cis	cerebellum	SCAN
rs11173337	OR6C76	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60531000-60531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:60531200-60531800	Enhancers	A549	lung
3	chr12:60531200-60532000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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