Variant report

Variant	rs11059549
Chromosome Location	chr12:123201039-123201040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123186486..123188573-chr12:123199930..123201817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182782	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12303524	1.00[AMR][1000 genomes]
rs12308931	0.85[AFR][1000 genomes]
rs12322238	0.82[AFR][1000 genomes]
rs590447	1.00[AMR][1000 genomes]
rs7960134	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13329	chr12:123178106-123210671	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv973132	chr12:123184783-123201537	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv3348872	chr12:123192296-123213461	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11059549	DIABLO	cis	lymphoblastoid	seeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123195400-123202200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:123198800-123201400	Active TSS	Primary B cells from cord blood	blood
3	chr12:123198800-123201400	Enhancers	NHEK	skin
4	chr12:123199400-123204600	Weak transcription	HMEC	breast
5	chr12:123199600-123201600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:123200200-123201400	Enhancers	Adipose Nuclei	Adipose
7	chr12:123200200-123204400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:123200200-123204600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:123200200-123205600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:123200600-123201200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:123200600-123201400	Flanking Active TSS	HepG2	liver
12	chr12:123200600-123201600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:123200800-123201200	Enhancers	Spleen	Spleen
14	chr12:123200800-123201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:123200800-123201400	Enhancers	Fetal Thymus	thymus
16	chr12:123200800-123201400	Enhancers	GM12878-XiMat	blood
17	chr12:123200800-123207800	Weak transcription	Lung	lung
18	chr12:123201000-123201200	Active TSS	Esophagus	oesophagus
19	chr12:123201000-123201400	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:123201000-123201400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:123201000-123201600	Flanking Active TSS	Hela-S3	cervix
22	chr12:123201000-123207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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