Variant report

Variant	rs73501240
Chromosome Location	chr9:104227461-104227462
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	USF2	chr9:104227252-104227508	HepG2	liver:	n/a	n/a
2	CTCF	chr9:104227420-104227570	Caco-2	colon:	n/a	n/a
3	CTCF	chr9:104227447-104228049	A549	lung:	n/a	chr9:104227731-104227744
4	RAD21	chr9:104227459-104228168	HCT-116	colon:	n/a	chr9:104227793-104227805

No.	Distal block	Cell Line	Cell type
1	chr9:104227401..104228428-chr9:104292031..104293031,5	K562	blood:
2	chr9:104226892..104228195-chr9:104292114..104293047,7	MCF-7	breast:
3	chr9:104211455..104212266-chr9:104227296..104227829,2	K562	blood:

Variant related genes	Relation type
ENSG00000225376	TF binding region
ENSG00000270982	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73501242	1.00[AFR][1000 genomes]
rs73501243	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:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104217000-104227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:104218600-104228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:104221800-104227600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:104221800-104227600	Weak transcription	NHLF	lung
6	chr9:104221800-104235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:104224200-104230800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:104224800-104235000	Weak transcription	Pancreas	Pancrea
10	chr9:104225000-104237800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:104225400-104227600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:104225400-104228000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:104225400-104230400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:104225400-104235800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:104225400-104237200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:104225800-104229200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:104226000-104227600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:104226000-104227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:104226000-104239200	Weak transcription	NH-A	brain
20	chr9:104226200-104227800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:104226400-104228000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:104226400-104228200	Weak transcription	Fetal Heart	heart
23	chr9:104226400-104236400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:104226600-104227800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:104226600-104228400	Enhancers	Brain Cingulate Gyrus	brain
26	chr9:104226600-104229200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr9:104226600-104235200	Weak transcription	Ovary	ovary
28	chr9:104226600-104236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:104226600-104238200	Weak transcription	Esophagus	oesophagus
30	chr9:104226800-104230200	Enhancers	Brain Hippocampus Middle	brain
31	chr9:104227000-104227800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:104227000-104227800	Enhancers	HepG2	liver
33	chr9:104227200-104227600	Weak transcription	Fetal Intestine Large	intestine
34	chr9:104227200-104227800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:104227200-104227800	Enhancers	Liver	Liver
36	chr9:104227200-104231800	Weak transcription	Right Ventricle	heart
37	chr9:104227400-104227600	Weak transcription	Brain Substantia Nigra	brain
38	chr9:104227400-104227800	Enhancers	K562	blood
39	chr9:104227400-104227800	Enhancers	NHEK	skin
40	chr9:104227400-104228000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:104227400-104228000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:104227400-104228000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr9:104227400-104228000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:104227400-104228000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:104227400-104228000	Enhancers	HMEC	breast
46	chr9:104227400-104228200	Enhancers	Adipose Nuclei	Adipose
47	chr9:104227400-104228200	Enhancers	Fetal Intestine Small	intestine
48	chr9:104227400-104228400	Enhancers	Hela-S3	cervix
49	chr9:104227400-104229000	Enhancers	NHDF-Ad	bronchial
50	chr9:104227400-104229400	Enhancers	Stomach Mucosa	stomach

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