Variant report

Variant	rs546825331
Chromosome Location	chr10:116580802-116580803
allele	A/G
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	RFX5	chr10:116580617-116581604	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr10:116580611-116580929	Hela-S3	cervix:	n/a	n/a
3	TFAP2C	chr10:116580686-116582467	Hela-S3	cervix:	n/a	chr10:116581448-116581463 chr10:116580836-116580851
4	POLR2A	chr10:116580785-116583141	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:116580751-116582873	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr10:116580633-116581958	A549	lung:	n/a	chr10:116581357-116581370 chr10:116581354-116581372 chr10:116581103-116581111
7	TFAP2A	chr10:116580655-116582269	Hela-S3	cervix:	n/a	chr10:116580840-116580850 chr10:116582249-116582257 chr10:116582099-116582111 chr10:116582249-116582257 chr10:116582249-116582257 chr10:116582101-116582111 chr10:116581448-116581463 chr10:116581887-116581902 chr10:116580840-116580850
8	MXI1	chr10:116580731-116583291	SK-N-SH	brain:	n/a	n/a
9	CEBPB	chr10:116580521-116580887	Hela-S3	cervix:	n/a	chr10:116580606-116580617
10	MXI1	chr10:116580660-116583135	IMR90	lung:	n/a	n/a
11	MYC	chr10:116580723-116581636	MCF10A-Er-Src	breast:	n/a	chr10:116581030-116581040
12	MYC	chr10:116580790-116580807	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:116567584..116574580-chr10:116575101..116583231,11	MCF-7	breast:
2	chr10:116579148..116581126-chr10:116581176..116582786,3	MCF-7	breast:
3	chr10:116575494..116578184-chr10:116579422..116580946,2	K562	blood:
4	chr10:116577691..116581134-chr10:116581459..116583772,3	MCF-7	breast:

Variant related genes	Relation type
FAM160B1	TF binding region
ENSG00000215760	Chromatin interaction
ENSG00000151553	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv1814163	chr10:116519705-116582581	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv518081	chr10:116576189-116582502	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3338822	chr10:116579462-116583960	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3407216	chr10:116580587-116583135	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3343755	chr10:116580762-116583210	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116576000-116581000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr10:116576000-116581000	Weak transcription	NHDF-Ad	bronchial
3	chr10:116576200-116581000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr10:116579400-116581000	Enhancers	Liver	Liver
5	chr10:116579400-116583600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:116579600-116581000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:116579800-116583600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:116580200-116582200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:116580400-116581000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr10:116580400-116581200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:116580600-116581000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:116580600-116581000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:116580600-116581000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr10:116580600-116581000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr10:116580600-116581000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr10:116580600-116581000	Enhancers	Colon Smooth Muscle	Colon
17	chr10:116580600-116581000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:116580600-116581200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:116580600-116581200	Enhancers	Primary hematopoietic stem cells	blood
20	chr10:116580600-116581200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:116580600-116581200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:116580600-116581200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:116580600-116581200	Flanking Active TSS	Osteobl	bone
24	chr10:116580600-116581400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr10:116580600-116581400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:116580600-116581400	Flanking Active TSS	Dnd41	blood
27	chr10:116580600-116581400	Flanking Active TSS	HUVEC	blood vessel
28	chr10:116580600-116581600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:116580600-116582800	Active TSS	NHEK	skin
30	chr10:116580600-116583000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr10:116580600-116583600	Active TSS	GM12878-XiMat	blood
32	chr10:116580600-116583800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:116580600-116584600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:116580800-116581000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr10:116580800-116581000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:116580800-116581000	Enhancers	Adipose Nuclei	Adipose
37	chr10:116580800-116581000	Enhancers	HMEC	breast
38	chr10:116580800-116581200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr10:116580800-116581200	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:116580800-116581200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr10:116580800-116581400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:116580800-116582800	Active TSS	Hela-S3	cervix
43	chr10:116580800-116583000	Active TSS	Brain Angular Gyrus	brain
44	chr10:116580800-116583200	Active TSS	A549	lung
45	chr10:116580800-116583400	Active TSS	NH-A	brain
46	chr10:116580800-116584200	Active TSS	NHLF	lung
47	chr10:116580800-116584600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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