Variant report

Variant	rs12281063
Chromosome Location	chr11:36631877-36631878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10219403	0.86[AFR][1000 genomes]
rs11033704	0.82[ASW][hapmap];0.90[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs11033705	0.82[ASW][hapmap];0.81[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs11033726	1.00[YRI][hapmap]
rs11033738	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033739	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033791	1.00[AMR][1000 genomes]
rs11825620	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs12270782	1.00[AMR][1000 genomes]
rs12271279	1.00[YRI][hapmap]
rs12271312	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12272250	1.00[AMR][1000 genomes]
rs12273796	0.88[YRI][hapmap]
rs12277409	1.00[AMR][1000 genomes]
rs12277745	0.90[YRI][hapmap]
rs12282321	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283026	0.91[YRI][hapmap]
rs12294126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377317	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4150999	0.89[YRI][hapmap]
rs4151001	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151030	0.82[ASW][hapmap];0.91[YRI][hapmap]
rs4151047	0.82[ASW][hapmap];0.91[YRI][hapmap]
rs7949264	1.00[YRI][hapmap]

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
rs12281063	C11orf74	cis	lymphoblastoid	seeQTL
rs12281063	LOC119710	cis	multi-tissue	Pritchard

Chromatin state (count:27 , 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	chr11:36617200-36640000	Weak transcription	Fetal Stomach	stomach
5	chr11:36617400-36632400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:36618000-36640400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:36621000-36635400	Enhancers	Dnd41	blood
8	chr11:36626800-36641000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:36627400-36639800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:36627800-36639000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:36628400-36637600	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:36628800-36640200	Weak transcription	Fetal Kidney	kidney
13	chr11:36630000-36632400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:36630400-36632400	Weak transcription	Psoas Muscle	Psoas
16	chr11:36630400-36641000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:36630600-36632400	Weak transcription	Adipose Nuclei	Adipose
18	chr11:36630600-36640400	Weak transcription	Ovary	ovary
19	chr11:36630600-36649000	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:36631000-36640800	Weak transcription	HSMM	muscle
23	chr11:36631200-36632200	Weak transcription	Fetal Thymus	thymus
24	chr11:36631200-36634000	Weak transcription	Stomach Mucosa	stomach
25	chr11:36631200-36637400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:36631800-36632200	Weak transcription	Thymus	Thymus
27	chr11:36631800-36632800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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