Variant report

Variant	rs1922428
Chromosome Location	chr12:116932040-116932041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116827904..116829031-chr12:116931686..116932609,7	MCF-7	breast:
2	chr12:116826897..116832091-chr12:116928924..116934069,7	MCF-7	breast:
3	chr12:116824132..116826282-chr12:116930673..116932315,2	MCF-7	breast:
4	chr12:116904977..116908141-chr12:116930941..116933700,3	MCF-7	breast:
5	chr12:116823342..116824209-chr12:116931738..116932609,4	MCF-7	breast:
6	chr12:116827892..116829031-chr12:116931651..116932733,17	MCF-7	breast:
7	chr12:116713254..116717684-chr12:116929471..116934995,7	MCF-7	breast:
8	chr12:116931517..116933283-chr12:116967828..116970603,2	K562	blood:
9	chr12:116713965..116717378-chr12:116931503..116934982,7	MCF-7	breast:
10	chr12:116718492..116723572-chr12:116930847..116933990,4	MCF-7	breast:
11	chr12:116857920..116859792-chr12:116930055..116932217,2	MCF-7	breast:
12	chr12:116843792..116845317-chr12:116930860..116933008,2	MCF-7	breast:
13	chr12:116861687..116866891-chr12:116930414..116936781,14	MCF-7	breast:
14	chr12:116924932..116929438-chr12:116930661..116934663,5	MCF-7	breast:
15	chr12:116924760..116928435-chr12:116929085..116933235,4	K562	blood:
16	chr12:116931521..116933253-chr12:116997598..116999273,2	MCF-7	breast:
17	chr12:116931900..116933432-chr12:116971956..116974760,2	MCF-7	breast:
18	chr12:116828009..116828838-chr12:116931687..116932654,5	MCF-7	breast:
19	chr12:116931863..116934462-chr12:116939510..116941183,2	MCF-7	breast:
20	chr12:116826294..116831312-chr12:116930135..116935656,18	MCF-7	breast:
21	chr12:116868461..116874518-chr12:116929408..116934961,8	MCF-7	breast:
22	chr12:116855670..116857875-chr12:116931428..116933849,2	MCF-7	breast:
23	chr12:116931562..116933562-chr12:117037336..117039083,2	MCF-7	breast:
24	chr12:116861189..116865677-chr12:116930751..116933434,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction
ENSG00000264037	Chromatin interaction
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1241229	0.85[EUR][1000 genomes]
rs1241233	1.00[CEU][hapmap]
rs2707201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2733638	0.85[EUR][1000 genomes]
rs2733639	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116928000-116932800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:116928400-116933000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:116929400-116937200	Weak transcription	Spleen	Spleen
4	chr12:116929600-116935000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:116930600-116932200	Weak transcription	Fetal Thymus	thymus
6	chr12:116930800-116932200	Weak transcription	HMEC	breast
7	chr12:116930800-116932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:116930800-116933000	Weak transcription	Hela-S3	cervix
9	chr12:116930800-116933000	Weak transcription	NHEK	skin
10	chr12:116930800-116933000	Weak transcription	Osteobl	bone
11	chr12:116930800-116935000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:116930800-116935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:116930800-116935200	Weak transcription	Gastric	stomach
14	chr12:116931000-116932200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:116931000-116932800	Weak transcription	NHDF-Ad	bronchial
16	chr12:116931000-116933000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:116931000-116933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:116931200-116932800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:116931200-116933000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:116931200-116933200	Weak transcription	K562	blood
21	chr12:116931400-116937400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:116931600-116934200	Enhancers	A549	lung

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