Variant report

Variant	rs73501243
Chromosome Location	chr9:104230693-104230694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr9:104230398-104230749	K562	blood:	n/a	n/a
2	USF2	chr9:104230431-104230786	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr9:104230313-104230801	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr9:104230550-104230725	K562	blood:	n/a	n/a
5	ELF1	chr9:104230431-104230806	K562	blood:	n/a	chr9:104230642-104230655
6	USF1	chr9:104230406-104230772	K562	blood:	n/a	n/a
7	USF2	chr9:104230592-104230717	HepG2	liver:	n/a	n/a
8	NFYB	chr9:104230548-104230747	Hela-S3	cervix:	n/a	n/a
9	USF1	chr9:104230388-104230859	HCT-116	colon:	n/a	n/a
10	USF1	chr9:104230371-104230720	H1-hESC	embryonic stem cell:	n/a	n/a
11	WRNIP1	chr9:104230592-104230697	GM12878	blood:	n/a	n/a
12	NFYB	chr9:104230453-104230734	GM12878	blood:	n/a	n/a
13	MAX	chr9:104230436-104230772	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr9:104230385-104230813	SK-N-SH	brain:	n/a	n/a
15	USF1	chr9:104230421-104230752	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104197118..104199793-chr9:104230175..104232444,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225376	TF binding region
ENSG00000136872	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73501240	1.00[AFR][1000 genomes]
rs73501242	1.00[AFR][1000 genomes]
rs73501246	1.00[AFR][1000 genomes]
rs73501248	1.00[AFR][1000 genomes]
rs73501249	0.87[AFR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104221800-104235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:104224200-104230800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:104224800-104235000	Weak transcription	Pancreas	Pancrea
6	chr9:104225000-104237800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:104225400-104235800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:104225400-104237200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:104226000-104239200	Weak transcription	NH-A	brain
10	chr9:104226400-104236400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:104226600-104235200	Weak transcription	Ovary	ovary
12	chr9:104226600-104236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:104226600-104238200	Weak transcription	Esophagus	oesophagus
14	chr9:104227200-104231800	Weak transcription	Right Ventricle	heart
15	chr9:104227600-104235600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:104227800-104230800	Weak transcription	HepG2	liver
17	chr9:104227800-104232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:104227800-104234200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:104227800-104235000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:104227800-104235200	Weak transcription	Fetal Intestine Large	intestine
21	chr9:104227800-104235800	Weak transcription	Aorta	Aorta
22	chr9:104227800-104238200	Weak transcription	Colonic Mucosa	Colon
23	chr9:104227800-104242800	Weak transcription	K562	blood
24	chr9:104227800-104248200	Weak transcription	Liver	Liver
25	chr9:104228000-104235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:104228000-104236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:104228000-104238000	Weak transcription	A549	lung
28	chr9:104228000-104240000	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:104228200-104235800	Weak transcription	Adipose Nuclei	Adipose
30	chr9:104228200-104237600	Weak transcription	Fetal Intestine Small	intestine
31	chr9:104228400-104234600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:104228400-104237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:104228400-104239200	Weak transcription	Hela-S3	cervix
34	chr9:104228400-104240400	Weak transcription	Fetal Heart	heart
35	chr9:104228800-104230800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:104229000-104235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:104229000-104239200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:104229000-104239600	Weak transcription	NHEK	skin
39	chr9:104229000-104240000	Weak transcription	NHDF-Ad	bronchial
40	chr9:104229000-104248200	Weak transcription	NHLF	lung
41	chr9:104229200-104235800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:104229400-104231000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:104229400-104231000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:104229600-104234200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:104229600-104236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:104229800-104231000	Enhancers	Stomach Mucosa	stomach
47	chr9:104230200-104231200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:104230200-104234400	Weak transcription	Fetal Brain Female	brain
49	chr9:104230200-104238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:104230400-104230800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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