Variant report

Variant	rs12283026
Chromosome Location	chr11:36660632-36660633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36524585..36526745-chr11:36660156..36661890,2	K562	blood:
2	chr11:36660144..36660808-chr11:36704212..36704764,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10219403	0.92[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];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033705	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033726	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033738	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs11033739	0.87[AFR][1000 genomes]
rs11033740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11033754	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11820706	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824427	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825620	1.00[YRI][hapmap];0.97[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];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271312	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273684	1.00[AMR][1000 genomes]
rs12273796	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274228	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs12274720	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276673	1.00[AMR][1000 genomes]
rs12277745	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12277943	0.85[AFR][1000 genomes]
rs12279639	1.00[AMR][1000 genomes]
rs12280515	1.00[AMR][1000 genomes]
rs12280564	1.00[AMR][1000 genomes]
rs12281063	0.91[YRI][hapmap]
rs12286152	1.00[AMR][1000 genomes]
rs13377317	0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16929080	1.00[AMR][1000 genomes]
rs16929093	1.00[AMR][1000 genomes]
rs35211174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150999	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4151001	0.91[YRI][hapmap]
rs4151011	1.00[AMR][1000 genomes]
rs4151030	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151047	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273606	1.00[AMR][1000 genomes]
rs7119565	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	nsv467793	chr11:36632515-37171833	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv554006	chr11:36632515-37171833	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv518415	chr11:36644076-36661723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12283026	C11orf74	cis	multi-tissue	Pritchard
rs12283026	LOC119710	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:36640800-36669400	Weak transcription	Aorta	Aorta
5	chr11:36641400-36669400	Weak transcription	Adipose Nuclei	Adipose
6	chr11:36641400-36669600	Weak transcription	Ovary	ovary
7	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
8	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
9	chr11:36642200-36669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:36646400-36677000	Weak transcription	Lung	lung
11	chr11:36647600-36661200	Weak transcription	Pancreas	Pancrea
12	chr11:36648600-36661000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:36648600-36681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:36648800-36680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:36649400-36669400	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:36650600-36687000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:36650800-36682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:36651000-36670000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:36651000-36671400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:36651000-36684000	Weak transcription	HSMMtube	muscle
21	chr11:36653600-36661000	Weak transcription	Fetal Thymus	thymus
22	chr11:36653600-36663400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:36653600-36669800	Weak transcription	Liver	Liver
24	chr11:36653600-36680800	Weak transcription	Brain Anterior Caudate	brain
25	chr11:36653800-36669600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:36653800-36684400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:36654800-36669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:36656400-36680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:36656800-36669400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:36656800-36677800	Weak transcription	Psoas Muscle	Psoas
31	chr11:36657600-36670400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:36658200-36660800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:36658200-36671600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:36659200-36661200	Weak transcription	Thymus	Thymus
35	chr11:36659800-36661200	Enhancers	Stomach Mucosa	stomach
36	chr11:36659800-36670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:36660000-36660800	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:36660000-36661600	Enhancers	Colon Smooth Muscle	Colon
39	chr11:36660200-36660800	Enhancers	Fetal Lung	lung
40	chr11:36660200-36661600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:36660400-36660800	Enhancers	Fetal Stomach	stomach
42	chr11:36660400-36661400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:36660400-36661800	Strong transcription	Left Ventricle	heart
44	chr11:36660400-36670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:36660600-36661800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links