Variant report

Variant	rs41265306
Chromosome Location	chr9:14784389-14784390
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	FOXA1	chr9:14784323-14784460	T-47D	breast:	n/a	n/a
2	FOXA1	chr9:14784153-14784582	HepG2	liver:	n/a	n/a
3	FOXA1	chr9:14784217-14784571	HepG2	liver:	n/a	n/a
4	FOXA1	chr9:14784276-14784610	HepG2	liver:	n/a	n/a
5	FOXA2	chr9:14784309-14784520	HepG2	liver:	n/a	n/a
6	FOXA1	chr9:14784241-14784500	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14778874..14780922-chr9:14784330..14786333,2	K562	blood:

Variant related genes	Relation type
FREM1	TF binding region
ENSG00000164946	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1494353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16932275	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16932277	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16932291	0.94[AMR][1000 genomes]
rs2291683	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41265302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41265304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57207087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58120444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59913446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60452348	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1023955	chr9:14754010-14800259	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2761502	chr9:14757877-14827373	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:14748800-14790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14755800-14812400	Weak transcription	Pancreas	Pancrea
4	chr9:14758400-14793400	Weak transcription	Aorta	Aorta
5	chr9:14764800-14809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:14766600-14787400	Weak transcription	Fetal Intestine Large	intestine
7	chr9:14768600-14808800	Weak transcription	Fetal Intestine Small	intestine
8	chr9:14773400-14796400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:14776200-14794000	Weak transcription	Fetal Stomach	stomach
10	chr9:14779200-14798600	Strong transcription	Fetal Kidney	kidney
11	chr9:14779800-14789000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:14779800-14853200	Weak transcription	Placenta	Placenta
13	chr9:14780400-14795800	Weak transcription	Left Ventricle	heart
14	chr9:14780400-14843200	Weak transcription	Fetal Heart	heart
15	chr9:14780800-14785200	Strong transcription	Fetal Lung	lung
16	chr9:14781200-14784400	Weak transcription	Psoas Muscle	Psoas
17	chr9:14782000-14822000	Weak transcription	Fetal Brain Male	brain
18	chr9:14782200-14790400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:14782400-14784600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr9:14782400-14784600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:14782400-14785200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:14782600-14785200	Strong transcription	Adipose Nuclei	Adipose
23	chr9:14782800-14785400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr9:14782800-14822000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:14783000-14785800	Genic enhancers	HepG2	liver
26	chr9:14783600-14800200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr9:14783800-14784400	Enhancers	Fetal Muscle Leg	muscle
28	chr9:14784000-14787400	Weak transcription	Colon Smooth Muscle	Colon

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