Variant report

Variant	rs11001548
Chromosome Location	chr10:54072560-54072561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr10:54072515-54074594	HEK293	kidney:	n/a	chr10:54073942-54073956

No.	Distal block	Cell Line	Cell type
1	chr10:54071543..54073516-chr10:54113139..54115614,2	MCF-7	breast:
2	chr10:54065577..54083492-chr10:54193846..54218961,120	MCF-7	breast:
3	chr10:54071324..54082180-chr10:54192987..54217560,81	MCF-7	breast:

Variant related genes	Relation type
DKK1	TF binding region
ENSG00000231131	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10762689	0.92[ASN][1000 genomes]
rs10824351	0.94[ASN][1000 genomes]
rs11001553	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11001570	0.94[ASN][1000 genomes]
rs11001580	0.92[ASN][1000 genomes]
rs11001604	0.94[ASN][1000 genomes]
rs1590105	0.86[ASN][1000 genomes]
rs1991392	0.87[ASN][1000 genomes]
rs1991393	0.94[ASN][1000 genomes]
rs1991394	0.94[ASN][1000 genomes]
rs2288335	0.94[ASN][1000 genomes]
rs41281546	0.92[ASN][1000 genomes]
rs7073197	0.86[ASN][1000 genomes]
rs7081342	0.89[ASN][1000 genomes]
rs7083441	0.94[ASN][1000 genomes]
rs7910446	0.86[ASN][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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54068400-54073000	Weak transcription	Hela-S3	cervix
2	chr10:54068800-54072800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:54068800-54072800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:54068800-54072800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:54068800-54072800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:54068800-54072800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:54068800-54072800	Weak transcription	HSMM	muscle
8	chr10:54068800-54072800	Weak transcription	HSMMtube	muscle
9	chr10:54068800-54072800	Weak transcription	NHLF	lung
10	chr10:54068800-54073000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:54068800-54073000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:54068800-54073000	Weak transcription	Gastric	stomach
13	chr10:54068800-54073000	Weak transcription	Left Ventricle	heart
14	chr10:54068800-54073000	Weak transcription	Pancreas	Pancrea
15	chr10:54068800-54073800	Weak transcription	Lung	lung
16	chr10:54069000-54072800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:54069000-54072800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:54069000-54072800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:54069000-54072800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:54069000-54072800	Weak transcription	HUVEC	blood vessel
21	chr10:54069000-54072800	Weak transcription	NH-A	brain
22	chr10:54069000-54072800	Weak transcription	Osteobl	bone
23	chr10:54069000-54073200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr10:54069200-54072800	Weak transcription	NHDF-Ad	bronchial
25	chr10:54071000-54072600	Enhancers	HMEC	breast
26	chr10:54071400-54072800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:54072000-54072800	Bivalent Enhancer	HepG2	liver
28	chr10:54072200-54072600	Weak transcription	NHEK	skin
29	chr10:54072400-54072600	Enhancers	A549	lung
30	chr10:54072400-54072800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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