Variant report

Variant	rs73406043
Chromosome Location	chr15:49917922-49917923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr15:49917684-49917982	GM12878	blood:	n/a	n/a
2	CBX3	chr15:49917589-49918031	K562	blood:	n/a	n/a
3	ZNF143	chr15:49917696-49917953	Hela-S3	cervix:	n/a	n/a
4	RXRA	chr15:49917838-49918110	GM12878	blood:	n/a	n/a
5	CBX3	chr15:49917634-49918098	K562	blood:	n/a	n/a
6	KAP1	chr15:49917615-49918328	K562	blood:	n/a	n/a
7	POLR2A	chr15:49917820-49917971	MCF10A-Er-Src	breast:	n/a	n/a
8	ZNF143	chr15:49917701-49917964	K562	blood:	n/a	n/a
9	POLR2A	chr15:49917767-49917927	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr15:49917559-49918082	A549	lung:	n/a	n/a
11	SETDB1	chr15:49917408-49918260	U2OS	brain:	n/a	chr15:49918202-49918226
12	SETDB1	chr15:49917644-49918037	K562	blood:	n/a	n/a
13	CBX3	chr15:49917679-49918087	HCT-116	colon:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:49849928..49852326-chr15:49917906..49919869,2	MCF-7	breast:
2	chr15:49917420..49918953-chr15:49923560..49925344,2	K562	blood:
3	chr15:49917069..49919627-chr15:49927874..49930419,3	MCF-7	breast:
4	chr15:49916467..49919057-chr15:49966051..49969032,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM227B	TF binding region
ENSG00000104047	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs60130190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60707261	0.89[AFR][1000 genomes]
rs61014555	0.89[AFR][1000 genomes]
rs73391027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73391029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400271	0.86[AFR][1000 genomes]
rs73400275	0.86[AFR][1000 genomes]
rs73404129	0.89[AFR][1000 genomes]
rs73404137	0.89[AFR][1000 genomes]
rs73404155	0.89[AFR][1000 genomes]
rs73404164	0.88[AFR][1000 genomes]
rs73404198	0.89[AFR][1000 genomes]
rs73406010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406011	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406029	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406095	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569392	chr15:49789413-49926300	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49913600-49937400	Weak transcription	Spleen	Spleen
2	chr15:49914000-49930000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:49914400-49918000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:49914400-49918000	Weak transcription	Thymus	Thymus
5	chr15:49914400-49927200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:49914400-49936400	Weak transcription	Small Intestine	intestine
7	chr15:49914400-49938000	Weak transcription	Brain Substantia Nigra	brain
8	chr15:49914600-49927200	Weak transcription	Fetal Brain Female	brain
9	chr15:49914600-49932600	Weak transcription	Fetal Brain Male	brain
10	chr15:49914600-49934400	Weak transcription	Stomach Mucosa	stomach
11	chr15:49914800-49937800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:49915000-49918000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:49915000-49918600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:49915000-49919600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:49915000-49936600	Weak transcription	Pancreas	Pancrea
16	chr15:49915200-49919600	Weak transcription	Brain Angular Gyrus	brain
17	chr15:49915400-49918800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:49915400-49937800	Weak transcription	Brain Anterior Caudate	brain
19	chr15:49915600-49918200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr15:49915600-49918600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr15:49915600-49919800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:49915800-49918000	Weak transcription	HepG2	liver
23	chr15:49915800-49918600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:49915800-49919800	Weak transcription	Fetal Heart	heart
25	chr15:49916000-49918600	ZNF genes & repeats	Hela-S3	cervix
26	chr15:49916000-49936400	Weak transcription	Psoas Muscle	Psoas
27	chr15:49916200-49918400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:49916400-49918200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr15:49916400-49918200	ZNF genes & repeats	K562	blood
30	chr15:49916400-49918600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr15:49916400-49918600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr15:49916800-49918200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr15:49916800-49918200	ZNF genes & repeats	GM12878-XiMat	blood
34	chr15:49916800-49918400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:49916800-49918400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr15:49917000-49918000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr15:49917000-49918000	Strong transcription	HUVEC	blood vessel
38	chr15:49917000-49918200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:49917000-49918200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr15:49917000-49918200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:49917000-49918200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr15:49917000-49918200	ZNF genes & repeats	Dnd41	blood
43	chr15:49917000-49918400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:49917000-49918400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:49917000-49918800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:49917200-49918200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr15:49917200-49918200	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr15:49917200-49918200	ZNF genes & repeats	HSMMtube	muscle
49	chr15:49917200-49918400	ZNF genes & repeats	NHDF-Ad	bronchial
50	chr15:49917200-49920200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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