Variant report

Variant	rs57325849
Chromosome Location	chr9:117878141-117878142
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	chr9:117878134-117878689	HCT-116	colon:	n/a	n/a
2	POLR2A	chr9:117858058-117881674	U87	brain:	n/a	n/a
3	POLR2A	chr9:117877891-117881556	U87	brain:	n/a	n/a
4	GATA3	chr9:117876789-117879555	SK-N-SH	brain:	n/a	chr9:117878767-117878775
5	CEBPB	chr9:117877946-117878565	IMR90	lung:	n/a	n/a
6	FOS	chr9:117876905-117878643	MCF10A-Er-Src	breast:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
7	POLR2A	chr9:117877249-117881760	IMR90	lung:	n/a	n/a
8	TCF12	chr9:117876852-117879384	SK-N-SH	brain:	n/a	chr9:117876898-117876905
9	POLR2A	chr9:117877221-117881586	U87	brain:	n/a	n/a
10	FOSL2	chr9:117877862-117878761	SK-N-SH	brain:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
11	CEBPB	chr9:117878052-117878665	A549	lung:	n/a	n/a
12	CEBPB	chr9:117878122-117878630	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr9:117877960-117879114	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr9:117877582-117878608	MCF10A-Er-Src	breast:	n/a	chr9:117878450-117878462
15	RCOR1	chr9:117877222-117879859	IMR90	lung:	n/a	n/a
16	EP300	chr9:117877875-117879433	SK-N-SH	brain:	n/a	chr9:117879156-117879172
17	FOSL2	chr9:117877736-117878627	SK-N-SH	brain:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
18	JUND	chr9:117876669-117878747	SK-N-SH	brain:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
19	PBX3	chr9:117876809-117878207	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr9:117876174-117879494	SK-N-SH	brain:	n/a	chr9:117876898-117876905
21	FOSL1	chr9:117878064-117878614	HCT-116	colon:	n/a	n/a
22	JUND	chr9:117877706-117878731	SK-N-SH	brain:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
23	FOS	chr9:117877790-117878768	MCF10A-Er-Src	breast:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
24	STAT3	chr9:117878125-117878616	MCF10A-Er-Src	breast:	n/a	chr9:117878450-117878462
25	POLR2A	chr9:117876849-117879682	SK-N-SH	brain:	n/a	n/a
26	CEBPB	chr9:117877994-117878723	HCT-116	colon:	n/a	n/a
27	FOS	chr9:117877810-117878660	MCF10A-Er-Src	breast:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
28	FOS	chr9:117877876-117878608	MCF10A-Er-Src	breast:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
29	POLR2A	chr9:117863693-117881740	U87	brain:	n/a	n/a
30	PBX3	chr9:117877895-117878706	SK-N-SH	brain:	n/a	n/a
31	STAT3	chr9:117877575-117878704	MCF10A-Er-Src	breast:	n/a	chr9:117878450-117878462
32	FOSL2	chr9:117877894-117878654	A549	lung:	n/a	chr9:117877962-117877973 chr9:117877960-117877970 chr9:117877960-117877970 chr9:117877961-117877969 chr9:117877960-117877970 chr9:117877960-117877970
33	NFIC	chr9:117876700-117879564	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TNC	TF binding region

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

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

rs_ID	r²[population]
rs62580463	1.00[EUR][1000 genomes]
rs62580479	0.83[EUR][1000 genomes]
rs62580481	0.83[EUR][1000 genomes]
rs62580505	0.83[EUR][1000 genomes]
rs7859964	0.83[EUR][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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117869200-117878400	Weak transcription	Fetal Lung	lung
2	chr9:117870400-117879000	Weak transcription	Esophagus	oesophagus
3	chr9:117875400-117879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:117876000-117878200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:117876000-117878200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr9:117876000-117879400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:117876200-117878200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:117876400-117878200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:117876400-117880200	Enhancers	Hela-S3	cervix
10	chr9:117876600-117878600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:117876600-117879000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
12	chr9:117876800-117879000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr9:117876800-117879200	Enhancers	HSMM	muscle
14	chr9:117877000-117878400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:117877000-117879400	Flanking Active TSS	NH-A	brain
16	chr9:117877200-117878200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:117877200-117878200	Enhancers	Fetal Stomach	stomach
18	chr9:117877200-117881400	Active TSS	Fetal Kidney	kidney
19	chr9:117877400-117878200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr9:117877400-117878400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr9:117877400-117878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:117877400-117879400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:117877400-117879800	Flanking Active TSS	Osteobl	bone
24	chr9:117877600-117878200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:117877600-117878200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr9:117877600-117878200	Transcr. at gene 5' and 3'	NHEK	skin
27	chr9:117877600-117878400	Enhancers	Fetal Muscle Leg	muscle
28	chr9:117877600-117878600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr9:117877600-117879000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:117877600-117879800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:117877600-117880200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr9:117877600-117881600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr9:117877800-117878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:117877800-117878200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:117877800-117878200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:117877800-117878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:117877800-117878200	Flanking Active TSS	NHLF	lung
38	chr9:117877800-117878600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:117877800-117878600	Weak transcription	HSMMtube	muscle
40	chr9:117877800-117878800	Weak transcription	Aorta	Aorta
41	chr9:117877800-117879200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr9:117877800-117879600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr9:117877800-117880000	Active TSS	Fetal Brain Female	brain
44	chr9:117878000-117878200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:117878000-117878200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr9:117878000-117878400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:117878000-117878400	Enhancers	HMEC	breast
48	chr9:117878000-117880200	Active TSS	Stomach Smooth Muscle	stomach
49	chr9:117878000-117881600	Active TSS	Colon Smooth Muscle	Colon

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