Variant report

Variant	rs12271312
Chromosome Location	chr11:36626179-36626180
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10219403	1.00[AFR][1000 genomes]
rs11033700	1.00[AMR][1000 genomes]
rs11033701	1.00[AMR][1000 genomes]
rs11033702	1.00[AMR][1000 genomes]
rs11033704	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033705	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033726	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033738	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11033739	0.88[AFR][1000 genomes]
rs11033740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033754	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11820706	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824427	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825620	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828016	1.00[AMR][1000 genomes]
rs12271060	1.00[AMR][1000 genomes]
rs12271149	1.00[AMR][1000 genomes]
rs12271279	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273684	1.00[AMR][1000 genomes]
rs12273796	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274228	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs12274720	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276673	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277745	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279639	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280515	1.00[AMR][1000 genomes]
rs12280564	1.00[AMR][1000 genomes]
rs12281063	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12283026	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286152	1.00[AMR][1000 genomes]
rs12294126	0.83[AFR][1000 genomes]
rs13377317	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16929080	1.00[AMR][1000 genomes]
rs16929093	1.00[AMR][1000 genomes]
rs35211174	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150999	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4151001	1.00[YRI][hapmap]
rs4151011	1.00[AMR][1000 genomes]
rs4151030	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151047	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273606	1.00[AMR][1000 genomes]
rs7119565	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949264	1.00[YRI][hapmap]
rs9971624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1850719	chr11:36616867-36657272	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv467792	chr11:36624187-36898373	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv554005	chr11:36624187-36898373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12271312	C11orf74	cis	multi-tissue	Pritchard
rs12271312	LOC119710	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36616600-36640400	Weak transcription	Esophagus	oesophagus
2	chr11:36616600-36657000	Weak transcription	Left Ventricle	heart
3	chr11:36616800-36639600	Weak transcription	Aorta	Aorta
4	chr11:36617200-36626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:36617200-36630000	Weak transcription	HSMMtube	muscle
6	chr11:36617200-36640000	Weak transcription	Fetal Stomach	stomach
7	chr11:36617400-36632400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:36618000-36640400	Weak transcription	Primary T cells from cord blood	blood
9	chr11:36621000-36635400	Enhancers	Dnd41	blood
10	chr11:36624200-36627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:36624400-36627800	Enhancers	Thymus	Thymus
12	chr11:36624400-36628000	Enhancers	Fetal Thymus	thymus
13	chr11:36624800-36626800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:36625000-36626800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:36625600-36626200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:36625600-36626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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