Variant report

Variant	rs9472489
Chromosome Location	chr6:45393895-45393896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:45393503-45394169	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45346603..45348483-chr6:45391933..45394862,2	K562	blood:
2	chr6:45391180..45393282-chr6:45393319..45396759,3	K562	blood:
3	chr6:45388641..45391328-chr6:45393713..45395378,2	K562	blood:
4	chr6:45391736..45393950-chr6:45394810..45397600,3	K562	blood:
5	chr6:45387968..45391000-chr6:45393713..45395971,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271857	TF binding region
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1321075	0.94[AFR][1000 genomes]
rs1321076	0.88[AFR][1000 genomes]
rs13437231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2819860	0.86[AFR][1000 genomes]
rs73441910	0.91[EUR][1000 genomes]
rs9463087	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472477	0.93[EUR][1000 genomes]
rs9472482	1.00[AMR][1000 genomes];0.96[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45391600-45394400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:45392200-45394200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:45392200-45394400	Flanking Active TSS	Osteobl	bone
4	chr6:45392200-45395000	Enhancers	Dnd41	blood
5	chr6:45392200-45396400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:45392200-45400600	Weak transcription	HMEC	breast
7	chr6:45392200-45404800	Weak transcription	Brain Substantia Nigra	brain
8	chr6:45392400-45394000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:45392400-45394200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:45392400-45396000	Enhancers	NHDF-Ad	bronchial
11	chr6:45392400-45398200	Weak transcription	HSMMtube	muscle
12	chr6:45392400-45398600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:45392400-45400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:45392400-45400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:45392400-45406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:45392600-45395800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:45392600-45400600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:45392800-45399000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:45392800-45399200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:45393000-45394000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:45393000-45394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:45393000-45394000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:45393000-45394400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:45393000-45394600	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:45393000-45395200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:45393000-45395400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:45393000-45396200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:45393000-45396600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:45393000-45398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:45393000-45400600	Weak transcription	NHLF	lung
31	chr6:45393200-45394400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:45393200-45394400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr6:45393200-45395800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr6:45393400-45394000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:45393400-45394000	Strong transcription	HSMM	muscle
36	chr6:45393400-45394600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:45393400-45394800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:45393400-45395200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:45393400-45395600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:45393400-45396200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:45393400-45397600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:45393400-45398400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:45393600-45394000	Weak transcription	NH-A	brain
44	chr6:45393800-45394000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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