Variant report

Variant	rs73518450
Chromosome Location	chr9:95090713-95090714
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:95090620-95090770	HPF	lung:	n/a	n/a
2	SMC3	chr9:95090240-95091082	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr9:95090517-95090854	GM12878	blood:	n/a	n/a
4	CTCF	chr9:95090640-95090790	HFF-Myc	foreskin:	n/a	n/a
5	CTCF	chr9:95090605-95090799	GM10266	blood:	n/a	n/a
6	CTCF	chr9:95090620-95090770	HVMF	connective:	n/a	n/a
7	CTCF	chr9:95090620-95090770	HMEC	breast:	n/a	n/a
8	CTCF	chr9:95090600-95090750	A549	lung:	n/a	n/a
9	CTCF	chr9:95090640-95090790	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr9:95090539-95090830	HepG2	liver:	n/a	n/a
11	RAD21	chr9:95090225-95091114	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr9:95090691-95090717	A549	lung:	n/a	n/a
13	CTCF	chr9:95090521-95090818	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr9:95090539-95090852	MCF-7	breast:	n/a	n/a
15	RAD21	chr9:95090592-95090791	GM12878	blood:	n/a	n/a
16	CTCF	chr9:95090620-95090770	MCF-7	breast:	n/a	n/a
17	RAD21	chr9:95090489-95090864	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr9:95090700-95090850	HRE	kidney:	n/a	n/a
19	NFYB	chr9:95090563-95090858	Hela-S3	cervix:	n/a	chr9:95090714-95090729
20	CTCF	chr9:95090600-95090800	MCF-7	breast:	n/a	n/a
21	ZNF143	chr9:95090587-95090809	GM12878	blood:	n/a	n/a
22	RAD21	chr9:95090494-95090905	IMR90	lung:	n/a	n/a
23	CTCF	chr9:95090620-95090770	GM12865	blood:	n/a	n/a
24	CTCF	chr9:95090620-95090770	NHEK	skin:	n/a	n/a
25	CTCF	chr9:95090629-95090780	NHEK	skin:	n/a	n/a
26	CTCF	chr9:95090640-95090790	AG10803	skin:	n/a	n/a
27	CTCF	chr9:95090600-95090750	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr9:95090660-95090810	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr9:95090655-95090758	GM19239	blood:	n/a	n/a
30	CTCF	chr9:95090432-95090785	A549	lung:	n/a	n/a
31	CTCF	chr9:95090640-95090790	NHLF	lung:	n/a	n/a
32	CTCF	chr9:95090580-95090730	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr9:95090600-95090750	K562	blood:	n/a	n/a
34	RAD21	chr9:95090412-95090821	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr9:95090507-95090870	GM12878	blood:	n/a	n/a
36	CTCF	chr9:95090597-95090845	A549	lung:	n/a	n/a
37	CTCF	chr9:95090589-95090838	K562	blood:	n/a	n/a
38	POLR2A	chr9:95090578-95090812	IMR90	lung:	n/a	n/a
39	CTCF	chr9:95090600-95090750	GM12878	blood:	n/a	n/a
40	CTCF	chr9:95090600-95090750	AG10803	skin:	n/a	n/a
41	CTCF	chr9:95090640-95090790	BE2_C	brain:	n/a	n/a
42	CTCF	chr9:95090620-95090770	AG04450	lung:	n/a	n/a
43	MYC	chr9:95090581-95090817	MCF10A-Er-Src	breast:	n/a	n/a
44	CTCF	chr9:95090640-95090790	MCF-7	breast:	n/a	n/a
45	CTCF	chr9:95090645-95090775	Fibrobl	skin:	n/a	n/a
46	RAD21	chr9:95090543-95090813	HepG2	liver:	n/a	n/a
47	CTCF	chr9:95090490-95090877	GM12878	blood:	n/a	n/a
48	CTCF	chr9:95090580-95090730	GM12864	blood:	n/a	n/a
49	CTCF	chr9:95090580-95090730	BJ	skin:	n/a	n/a
50	CTCF	chr9:95090594-95090792	Medullo	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:95088180..95090953-chr9:95432488..95434668,3	K562	blood:
2	chr9:95088180..95090953-chr9:95432548..95434668,2	K562	blood:
3	chr9:95088163..95089676-chr9:95089853..95092635,2	MCF-7	breast:
4	chr9:95090405..95091041-chr9:95396676..95397422,4	K562	blood:
5	chr9:95090696..95092627-chr9:95093724..95096135,2	K562	blood:
6	chr9:95090253..95091014-chr9:95396744..95397612,4	MCF-7	breast:
7	chr9:94875796..94880000-chr9:95086097..95090720,4	MCF-7	breast:
8	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:

No data

Variant related genes	Relation type
NOL8	TF binding region
ENSG00000196305	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000090054	Chromatin interaction
ENSG00000239183	Chromatin interaction
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16908298	1.00[AMR][1000 genomes]
rs16908313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1868027	1.00[AMR][1000 genomes]
rs35161698	0.83[AFR][1000 genomes]
rs57050708	0.95[AFR][1000 genomes]
rs57507064	1.00[AMR][1000 genomes]
rs57537991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57720908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57829709	1.00[AFR][1000 genomes]
rs58545014	1.00[AMR][1000 genomes]
rs59203890	1.00[AMR][1000 genomes]
rs59274719	1.00[AMR][1000 genomes]
rs59491936	1.00[AMR][1000 genomes]
rs59541513	1.00[AMR][1000 genomes]
rs60502055	1.00[AMR][1000 genomes]
rs60556849	1.00[AMR][1000 genomes]
rs60863225	0.83[AFR][1000 genomes]
rs73516514	0.95[AFR][1000 genomes]
rs73516525	0.95[AFR][1000 genomes]
rs73516542	1.00[AFR][1000 genomes]
rs73516563	1.00[AFR][1000 genomes]
rs73516586	1.00[AMR][1000 genomes]
rs73516588	1.00[AMR][1000 genomes]
rs73516599	1.00[AMR][1000 genomes]
rs73518427	1.00[AMR][1000 genomes]
rs73518479	0.91[AFR][1000 genomes]
rs73518492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520521	0.92[AFR][1000 genomes]
rs73520537	0.90[AFR][1000 genomes]
rs73520599	0.83[AFR][1000 genomes]
rs7853817	1.00[AMR][1000 genomes]
rs7868362	1.00[AMR][1000 genomes]
rs7875329	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95088400-95091000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:95088600-95091800	Weak transcription	Gastric	stomach
3	chr9:95088600-95096800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:95088600-95100000	Weak transcription	Spleen	Spleen
5	chr9:95088600-95101000	Weak transcription	Aorta	Aorta
6	chr9:95088600-95103600	Weak transcription	Esophagus	oesophagus
7	chr9:95088600-95104000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:95088600-95108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:95088800-95090800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:95088800-95099800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:95088800-95100000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr9:95088800-95100000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:95088800-95100000	Weak transcription	Lung	lung
14	chr9:95088800-95100200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:95088800-95100400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:95088800-95100400	Weak transcription	Ovary	ovary
17	chr9:95088800-95102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:95088800-95102600	Weak transcription	Small Intestine	intestine
19	chr9:95088800-95103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:95088800-95103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:95088800-95103800	Weak transcription	Pancreas	Pancrea
22	chr9:95088800-95104000	Weak transcription	Left Ventricle	heart
23	chr9:95088800-95111200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:95088800-95111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:95089000-95097000	Weak transcription	Psoas Muscle	Psoas
26	chr9:95089000-95099800	Weak transcription	Primary B cells from cord blood	blood
27	chr9:95089000-95100000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:95089000-95100000	Weak transcription	Brain Angular Gyrus	brain
29	chr9:95089000-95100000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:95089000-95101000	Weak transcription	Brain Substantia Nigra	brain
31	chr9:95089000-95101200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:95089000-95101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:95089000-95102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr9:95089000-95102600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:95089000-95103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr9:95089000-95103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr9:95089000-95104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:95089000-95104000	Weak transcription	HSMMtube	muscle
39	chr9:95089000-95105600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:95089000-95110200	Weak transcription	HSMM	muscle
41	chr9:95089000-95112200	Weak transcription	Adipose Nuclei	Adipose
42	chr9:95089200-95091200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:95089200-95097800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr9:95089200-95099800	Weak transcription	Brain Anterior Caudate	brain
45	chr9:95089200-95100000	Weak transcription	Liver	Liver
46	chr9:95089200-95100000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr9:95089200-95100000	Weak transcription	Fetal Brain Female	brain
48	chr9:95089200-95100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:95089200-95101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:95089200-95103800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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