Variant report

Variant	rs11042715
Chromosome Location	chr11:10295752-10295753
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	chr11:10260654..10262324-chr11:10295566..10297220,2	MCF-7	breast:
2	chr11:10293712..10297432-chr11:10324720..10326890,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148926	Chromatin interaction
ENSG00000254554	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10128609	1.00[EUR][1000 genomes]
rs10128701	1.00[EUR][1000 genomes]
rs11042616	1.00[EUR][1000 genomes]
rs11042619	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11042631	1.00[EUR][1000 genomes]
rs11042672	1.00[EUR][1000 genomes]
rs11042674	1.00[EUR][1000 genomes]
rs11042691	1.00[EUR][1000 genomes]
rs11042694	1.00[EUR][1000 genomes]
rs11042696	1.00[EUR][1000 genomes]
rs11042697	1.00[EUR][1000 genomes]
rs11042698	1.00[EUR][1000 genomes]
rs11042701	1.00[EUR][1000 genomes]
rs11042705	1.00[EUR][1000 genomes]
rs11042706	1.00[EUR][1000 genomes]
rs11042707	1.00[EUR][1000 genomes]
rs11042708	1.00[EUR][1000 genomes]
rs11042709	1.00[EUR][1000 genomes]
rs11042710	1.00[EUR][1000 genomes]
rs11042711	1.00[EUR][1000 genomes]
rs11042722	1.00[EUR][1000 genomes]
rs12269976	1.00[EUR][1000 genomes]
rs12270278	1.00[EUR][1000 genomes]
rs12270822	1.00[EUR][1000 genomes]
rs12271159	1.00[EUR][1000 genomes]
rs12271480	1.00[EUR][1000 genomes]
rs12272306	1.00[EUR][1000 genomes]
rs12273035	0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12274021	0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12277936	1.00[EUR][1000 genomes]
rs12279727	1.00[EUR][1000 genomes]
rs12279936	1.00[EUR][1000 genomes]
rs12280877	1.00[EUR][1000 genomes]
rs12282728	1.00[EUR][1000 genomes]
rs12285084	1.00[EUR][1000 genomes]
rs12287964	1.00[EUR][1000 genomes]
rs12288833	1.00[EUR][1000 genomes]
rs12291188	1.00[EUR][1000 genomes]
rs12291783	1.00[EUR][1000 genomes]
rs12292901	1.00[EUR][1000 genomes]
rs12294052	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294064	1.00[EUR][1000 genomes]
rs1372812	0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16907612	1.00[EUR][1000 genomes]
rs16907632	0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4537746	1.00[EUR][1000 genomes]
rs5005	1.00[EUR][1000 genomes]
rs55919524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56948226	1.00[EUR][1000 genomes]
rs57138875	1.00[EUR][1000 genomes]
rs57672320	1.00[EUR][1000 genomes]
rs58354844	1.00[EUR][1000 genomes]
rs59629505	1.00[EUR][1000 genomes]
rs59651099	1.00[EUR][1000 genomes]
rs59709366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59928017	1.00[EUR][1000 genomes]
rs60051250	1.00[EUR][1000 genomes]
rs7942109	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	esv3468808	chr11:10291076-10295774	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042715	SBF2	cis	lymphoblastoid	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10268600-10300000	Weak transcription	Fetal Intestine Small	intestine
2	chr11:10278200-10309200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:10279000-10311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:10279400-10296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:10285400-10303400	Weak transcription	Fetal Intestine Large	intestine
6	chr11:10287600-10306200	Weak transcription	Psoas Muscle	Psoas
7	chr11:10289200-10299200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:10289400-10299200	Weak transcription	Small Intestine	intestine
9	chr11:10290000-10313400	Weak transcription	Fetal Brain Male	brain
10	chr11:10290800-10309000	Weak transcription	HSMMtube	muscle
11	chr11:10291200-10313600	Weak transcription	NHEK	skin
12	chr11:10291200-10314400	Weak transcription	HSMM	muscle
13	chr11:10291400-10296000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:10291400-10296400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:10291400-10309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:10294200-10298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:10294200-10309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:10294200-10311400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:10295000-10295800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:10295000-10295800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:10295000-10295800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:10295000-10295800	Enhancers	A549	lung
23	chr11:10295000-10295800	Enhancers	NHDF-Ad	bronchial
24	chr11:10295200-10295800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:10295200-10295800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:10295200-10295800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:10295200-10295800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:10295200-10295800	Enhancers	NHLF	lung
29	chr11:10295200-10295800	Enhancers	Osteobl	bone
30	chr11:10295200-10297600	Enhancers	Adipose Nuclei	Adipose
31	chr11:10295400-10295800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:10295400-10295800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:10295600-10295800	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:10295600-10296600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:10295600-10296600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:10295600-10297200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:10295600-10299400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:10295600-10299800	Weak transcription	Ovary	ovary
39	chr11:10295600-10306600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:10295600-10307000	Weak transcription	Colon Smooth Muscle	Colon

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