Variant report

Variant	rs12351651
Chromosome Location	chr9:110253533-110253534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:110253347-110253692	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr9:110253157-110253743	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr9:110253400-110253650	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr9:110253404-110253789	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr9:110253510-110253673	Hela-S3	cervix:	n/a	n/a
6	SIN3A	chr9:110253330-110254163	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr9:110253381-110253704	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr9:110245600-110253991	IMR90	lung:	n/a	n/a
9	MAX	chr9:110253272-110253669	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr9:110253379-110253640	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:110253176-110253672	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110045521..110048079-chr9:110251760..110253947,2	MCF-7	breast:
2	chr9:110193925..110197671-chr9:110251200..110254442,3	MCF-7	breast:
3	chr9:110251912..110253723-chrX:47002554..47004950,2	MCF-7	breast:
4	chr9:110189538..110195123-chr9:110249494..110254933,10	MCF-7	breast:
5	chr9:110246769..110253919-chr9:110298442..110306182,20	MCF-7	breast:
6	chr16:89988575..89990110-chr9:110251839..110254629,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF4-7	chr9:110253424-110253859	NONHSAT133877

No data

Variant related genes	Relation type
KLF4	TF binding region
ENSG00000119318	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000227350	Chromatin interaction
ENSG00000263459	Chromatin interaction
ENSG00000226825	Chromatin interaction
ENSG00000258947	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10117763	0.88[EUR][1000 genomes]
rs10816519	1.00[EUR][1000 genomes]
rs11788360	1.00[EUR][1000 genomes]
rs11792359	1.00[EUR][1000 genomes]
rs11793219	1.00[EUR][1000 genomes]
rs11794295	1.00[EUR][1000 genomes]
rs11795298	1.00[EUR][1000 genomes]
rs12335657	1.00[EUR][1000 genomes]
rs12336189	1.00[EUR][1000 genomes]
rs12336214	1.00[EUR][1000 genomes]
rs12340310	1.00[EUR][1000 genomes]
rs12340462	1.00[EUR][1000 genomes]
rs12345785	1.00[EUR][1000 genomes]
rs12352260	0.94[EUR][1000 genomes]
rs12353064	1.00[EUR][1000 genomes]
rs34651589	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110246200-110253800	Active TSS	Right Atrium	heart
2	chr9:110247200-110254000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr9:110247400-110253800	Active TSS	Psoas Muscle	Psoas
4	chr9:110248400-110254200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr9:110249000-110253800	Active TSS	Brain Anterior Caudate	brain
6	chr9:110249200-110254200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr9:110249400-110253800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:110249600-110253800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr9:110249600-110254000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:110249600-110254000	Active TSS	Placenta Amnion	Placenta Amnion
11	chr9:110250000-110253800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:110250200-110253800	Active TSS	Left Ventricle	heart
13	chr9:110250200-110254000	Active TSS	Rectal Smooth Muscle	rectum
14	chr9:110250400-110254000	Active TSS	Aorta	Aorta
15	chr9:110250400-110254000	Active TSS	Ovary	ovary
16	chr9:110251000-110254000	Active TSS	Esophagus	oesophagus
17	chr9:110251200-110254000	Active TSS	Gastric	stomach
18	chr9:110251400-110254000	Active TSS	Right Ventricle	heart
19	chr9:110251600-110253600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:110251600-110253800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:110251600-110253800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:110251600-110254000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:110251600-110254200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr9:110251800-110253800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:110251800-110253800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:110251800-110254000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:110252400-110253600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr9:110252400-110253600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr9:110252400-110253800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:110252400-110253800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr9:110252400-110254000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:110252400-110254000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:110252400-110254000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:110252400-110254000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:110252400-110254000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr9:110252400-110254000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr9:110252400-110254000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr9:110252400-110254000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr9:110252400-110254000	Flanking Active TSS	Placenta	Placenta
40	chr9:110252400-110254000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr9:110252400-110254000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr9:110252400-110254200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr9:110252400-110254200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr9:110252600-110253600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:110252600-110253600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr9:110252600-110253600	Flanking Active TSS	NHEK	skin
47	chr9:110252600-110253800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:110252600-110254000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:110252600-110254000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr9:110252600-110254000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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