Variant report

Variant	rs73526540
Chromosome Location	chr9:97816761-97816762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:97816359-97816978	A549	lung:	n/a	n/a
2	CEBPB	chr9:97816432-97816837	IMR90	lung:	n/a	n/a
3	MYC	chr9:97816662-97816862	MCF10A-Er-Src	breast:	n/a	chr9:97816681-97816690 chr9:97816679-97816690

No.	Distal block	Cell Line	Cell type
1	chr9:97809451..97811509-chr9:97815332..97819190,3	K562	blood:
2	chr9:97815246..97817675-chr9:97824890..97827452,2	MCF-7	breast:
3	chr9:97810097..97812414-chr9:97813223..97817126,5	MCF-7	breast:
4	chr9:97684569..97686306-chr9:97814006..97816839,2	MCF-7	breast:
5	chr9:97815564..97817505-chr9:97820080..97822608,2	MCF-7	breast:
6	chr9:97814331..97816887-chr9:97827066..97829674,2	MCF-7	breast:
7	chr9:97813367..97817167-chr9:97817537..97820356,4	K562	blood:

Variant related genes	Relation type
C9orf3	TF binding region
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs4647545	0.90[AFR][1000 genomes]
rs60553517	1.00[AMR][1000 genomes]
rs60856972	1.00[AMR][1000 genomes]
rs73524654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73526528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73526548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73526572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536042	1.00[AMR][1000 genomes]
rs73536067	1.00[AMR][1000 genomes]
rs73536074	1.00[AMR][1000 genomes]
rs73538140	1.00[AMR][1000 genomes]
rs73538152	1.00[AMR][1000 genomes]
rs73540059	1.00[AMR][1000 genomes]
rs73540062	1.00[AMR][1000 genomes]
rs73540077	1.00[AMR][1000 genomes]
rs73540089	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers 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	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97810000-97816800	Transcr. at gene 5' and 3'	A549	lung
2	chr9:97811400-97820800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:97811600-97817600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:97811600-97817600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:97811600-97817800	Weak transcription	Right Ventricle	heart
6	chr9:97812400-97817400	Weak transcription	GM12878-XiMat	blood
7	chr9:97812600-97817400	Weak transcription	Adipose Nuclei	Adipose
8	chr9:97812600-97818600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:97812800-97816800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:97812800-97817600	Weak transcription	Right Atrium	heart
11	chr9:97813000-97817800	Weak transcription	Colonic Mucosa	Colon
12	chr9:97813000-97817800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:97813000-97817800	Weak transcription	Lung	lung
14	chr9:97813000-97818200	Weak transcription	Stomach Mucosa	stomach
15	chr9:97813000-97819600	Weak transcription	Hela-S3	cervix
16	chr9:97813000-97820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:97813000-97873000	Weak transcription	K562	blood
18	chr9:97813200-97817000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:97813200-97817400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:97813200-97817400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:97813200-97817600	Weak transcription	Brain Anterior Caudate	brain
22	chr9:97813200-97817600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:97813200-97817800	Weak transcription	Fetal Intestine Small	intestine
24	chr9:97813400-97817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:97813400-97817400	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:97813400-97817400	Weak transcription	Placenta	Placenta
27	chr9:97813400-97817400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:97813400-97817600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:97813400-97817600	Weak transcription	Brain Substantia Nigra	brain
30	chr9:97813400-97817800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:97813400-97818400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr9:97813400-97827200	Genic enhancers	Liver	Liver
33	chr9:97813800-97817800	Weak transcription	Brain Angular Gyrus	brain
34	chr9:97814400-97817600	Enhancers	Fetal Lung	lung
35	chr9:97815000-97817600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr9:97815200-97817800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:97815200-97824400	Weak transcription	Thymus	Thymus
38	chr9:97815400-97817400	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:97815400-97818400	Weak transcription	Gastric	stomach
40	chr9:97815600-97817400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:97816000-97817000	Genic enhancers	HSMM	muscle
42	chr9:97816000-97817000	Genic enhancers	Osteobl	bone
43	chr9:97816000-97817400	Enhancers	Stomach Smooth Muscle	stomach
44	chr9:97816000-97817600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:97816000-97817800	Enhancers	Colon Smooth Muscle	Colon
46	chr9:97816000-97817800	Enhancers	NHLF	lung
47	chr9:97816000-97823000	Enhancers	Fetal Heart	heart
48	chr9:97816200-97816800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:97816200-97817600	Enhancers	NH-A	brain
50	chr9:97816200-97817800	Enhancers	Duodenum Smooth Muscle	Duodenum

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