Variant report

Variant	rs548587333
Chromosome Location	chr10:44790378-44790379
allele	A/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	CTCF	chr10:44790260-44790410	GM12873	blood:	n/a	n/a
2	BCL3	chr10:44790369-44790780	GM12878	blood:	n/a	n/a
3	CTCF	chr10:44790326-44790428	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44790196..44793217-chr10:44793221..44795884,3	MCF-7	breast:
2	chr10:44755013..44756692-chr10:44790155..44792136,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229116	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3422728	chr10:44788646-44792944	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3352463	chr10:44789446-44792444	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44787800-44790800	Enhancers	Fetal Heart	heart
2	chr10:44787800-44791600	Enhancers	Ovary	ovary
3	chr10:44788200-44790400	Weak transcription	Pancreas	Pancrea
4	chr10:44788200-44790600	Weak transcription	Spleen	Spleen
5	chr10:44788200-44791000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:44788600-44791200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:44788600-44791600	Enhancers	NHDF-Ad	bronchial
8	chr10:44789000-44791400	Enhancers	GM12878-XiMat	blood
9	chr10:44789000-44791600	Enhancers	Right Ventricle	heart
10	chr10:44789200-44790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:44789200-44790400	Weak transcription	Brain Substantia Nigra	brain
12	chr10:44789200-44790400	Weak transcription	Gastric	stomach
13	chr10:44789200-44791000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:44789200-44791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:44789200-44791200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:44789200-44791400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:44789200-44791400	Enhancers	Rectal Smooth Muscle	rectum
18	chr10:44789200-44796600	Weak transcription	Fetal Brain Female	brain
19	chr10:44789400-44791000	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:44789400-44791200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:44789400-44791600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:44789800-44790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:44789800-44790400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:44789800-44790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:44789800-44790600	Enhancers	Aorta	Aorta
26	chr10:44789800-44790800	Weak transcription	NH-A	brain
27	chr10:44789800-44791000	Enhancers	Lung	lung
28	chr10:44789800-44791200	Enhancers	Left Ventricle	heart
29	chr10:44790000-44790400	Weak transcription	Brain Anterior Caudate	brain
30	chr10:44790000-44791200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:44790200-44790600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:44790200-44791200	Weak transcription	Brain Germinal Matrix	brain
33	chr10:44790200-44791400	Enhancers	NHLF	lung
34	chr10:44790200-44791600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:44790200-44791600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr10:44790200-44791600	Enhancers	Osteobl	bone

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