Variant report

Variant	rs73657940
Chromosome Location	chr9:104227269-104227270
allele	A/G
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	chr9:104227120-104227270	NHLF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104226892..104228195-chr9:104292114..104293047,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225376	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12003943	1.00[AMR][1000 genomes]
rs16920305	1.00[AMR][1000 genomes]
rs5007868	1.00[AMR][1000 genomes]
rs55729046	1.00[AMR][1000 genomes]
rs56319160	1.00[AMR][1000 genomes]
rs6479051	1.00[AMR][1000 genomes]
rs73657937	1.00[AMR][1000 genomes]
rs73657948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73657950	1.00[AMR][1000 genomes]
rs73657952	1.00[AMR][1000 genomes]
rs73657955	1.00[AMR][1000 genomes]
rs7864833	1.00[AMR][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:45 , 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	chr9:104221400-104227400	Weak transcription	Fetal Intestine Small	intestine
5	chr9:104221800-104227600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:104221800-104227600	Weak transcription	NHLF	lung
7	chr9:104221800-104235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:104223800-104227400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:104224200-104230800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:104224600-104227400	Weak transcription	Stomach Mucosa	stomach
12	chr9:104224800-104235000	Weak transcription	Pancreas	Pancrea
13	chr9:104225000-104237800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:104225400-104227400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:104225400-104227600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:104225400-104228000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:104225400-104230400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:104225400-104235800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr9:104225400-104237200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:104225800-104227400	Weak transcription	K562	blood
21	chr9:104225800-104229200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:104226000-104227400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:104226000-104227400	Weak transcription	Hela-S3	cervix
24	chr9:104226000-104227400	Weak transcription	NHEK	skin
25	chr9:104226000-104227600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:104226000-104227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:104226000-104239200	Weak transcription	NH-A	brain
28	chr9:104226200-104227800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:104226400-104228000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:104226400-104228200	Weak transcription	Fetal Heart	heart
31	chr9:104226400-104236400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:104226600-104227400	Weak transcription	NHDF-Ad	bronchial
33	chr9:104226600-104227800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:104226600-104228400	Enhancers	Brain Cingulate Gyrus	brain
35	chr9:104226600-104229200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:104226600-104235200	Weak transcription	Ovary	ovary
37	chr9:104226600-104236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:104226600-104238200	Weak transcription	Esophagus	oesophagus
39	chr9:104226800-104230200	Enhancers	Brain Hippocampus Middle	brain
40	chr9:104227000-104227800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:104227000-104227800	Enhancers	HepG2	liver
42	chr9:104227200-104227600	Weak transcription	Fetal Intestine Large	intestine
43	chr9:104227200-104227800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:104227200-104227800	Enhancers	Liver	Liver
45	chr9:104227200-104231800	Weak transcription	Right Ventricle	heart

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