Variant report

Variant	rs4645916
Chromosome Location	chr11:65481529-65481530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65479114-65482970	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65478963-65481591	U87	brain:	n/a	n/a
3	POLR2A	chr11:65481077-65483114	K562	blood:	n/a	n/a
4	POLR2A	chr11:65481505-65488416	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:65481527-65483038	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:65478995-65481591	U87	brain:	n/a	n/a
7	POLR2A	chr11:65479116-65481716	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:65481411-65483476	HepG2	liver:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:3826069..3828511-chr11:65479385..65481818,2	MCF-7	breast:
2	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
3	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
4	chr11:65418903..65421353-chr11:65481128..65482697,2	K562	blood:
5	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
6	chr11:65430466..65432280-chr11:65478658..65481830,3	K562	blood:
7	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
8	chr11:65477911..65483635-chr11:65545629..65549670,11	K562	blood:
9	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:
10	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
11	chr11:65403669..65406096-chr11:65480097..65481780,2	MCF-7	breast:
12	chr11:65477813..65481606-chr11:65666107..65669263,4	K562	blood:
13	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
14	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
15	chr11:65479277..65482595-chr11:65725720..65729556,3	MCF-7	breast:
16	chr11:65344842..65347495-chr11:65480705..65482591,2	K562	blood:
17	chr11:65479410..65482518-chr11:65556440..65559162,4	MCF-7	breast:
18	chr11:65478490..65481819-chr11:65637441..65641209,4	K562	blood:
19	chr11:65480803..65482959-chr11:65822015..65824523,2	MCF-7	breast:
20	chr11:65478491..65482258-chr11:65493417..65497237,3	K562	blood:

No data

Variant related genes	Relation type
KAT5	TF binding region
ENSG00000173442	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000214659	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000067082	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000254470	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11227247	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12417989	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418567	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418630	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12418683	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12419110	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420405	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420618	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421691	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1962691	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1963977	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075660	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2127510	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236683	0.97[EUR][1000 genomes]
rs2306365	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35927673	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36028748	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36091060	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36113281	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3741378	0.81[EUR][1000 genomes]
rs4578394	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4645917	0.90[EUR][1000 genomes]
rs4930158	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930299	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55758897	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56115979	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56236098	0.81[EUR][1000 genomes]
rs7101916	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107503	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119750	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7122081	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65480000-65487400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65480600-65481600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:65480600-65481600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65480600-65481800	Weak transcription	HUVEC	blood vessel
5	chr11:65480600-65482000	Weak transcription	Fetal Heart	heart
6	chr11:65480600-65482000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:65480600-65482000	Weak transcription	HSMMtube	muscle
8	chr11:65480600-65482400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:65480600-65483000	Genic enhancers	Placenta	Placenta
10	chr11:65480600-65485200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65480600-65485800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:65480600-65486400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:65480600-65486600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:65480600-65486800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:65480600-65486800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:65480800-65481800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:65480800-65482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:65480800-65482200	Weak transcription	Small Intestine	intestine
19	chr11:65480800-65482200	Genic enhancers	Stomach Smooth Muscle	stomach
20	chr11:65480800-65482400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:65480800-65482400	Transcr. at gene 5' and 3'	Hela-S3	cervix
22	chr11:65480800-65482600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:65480800-65482600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:65480800-65485000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:65480800-65485000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:65480800-65485400	Strong transcription	Psoas Muscle	Psoas
27	chr11:65480800-65485600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:65480800-65485600	Strong transcription	Liver	Liver
29	chr11:65480800-65485600	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr11:65480800-65485600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:65480800-65485800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:65480800-65485800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:65480800-65486000	Strong transcription	Thymus	Thymus
34	chr11:65480800-65486200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:65480800-65486200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:65480800-65486200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr11:65480800-65486200	Strong transcription	Lung	lung
38	chr11:65480800-65486200	Strong transcription	NHEK	skin
39	chr11:65480800-65486200	Strong transcription	NHLF	lung
40	chr11:65480800-65486400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:65480800-65486400	Strong transcription	Ovary	ovary
42	chr11:65480800-65486600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:65480800-65486600	Strong transcription	A549	lung
44	chr11:65480800-65486800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:65480800-65486800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr11:65480800-65486800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:65480800-65486800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:65480800-65486800	Strong transcription	Aorta	Aorta
49	chr11:65480800-65487000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65481000-65482000	Strong transcription	Esophagus	oesophagus

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