Variant report

Variant	rs9976336
Chromosome Location	chr21:17497405-17497406
allele	A/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	MYC	chr21:17496584-17497677	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF7L2	chr21:17496425-17497454	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr21:17496647-17497476	Hela-S3	cervix:	n/a	n/a
4	USF1	chr21:17497051-17497540	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr21:17496293-17497510	ECC-1	luminal epithelium:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
6	EP300	chr21:17496201-17498144	SK-N-SH	brain:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
7	BRCA1	chr21:17496695-17497959	Hela-S3	cervix:	n/a	chr21:17496924-17496931
8	MAX	chr21:17496680-17497456	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr21:17497058-17497462	Hela-S3	cervix:	n/a	n/a
10	JUND	chr21:17496645-17497505	Hela-S3	cervix:	n/a	chr21:17497426-17497435
11	CEBPB	chr21:17496590-17497506	IMR90	lung:	n/a	chr21:17496934-17496947
12	JUN	chr21:17496486-17497488	Hela-S3	cervix:	n/a	chr21:17497426-17497435
13	TBP	chr21:17496693-17497948	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr21:17496483-17497406	ECC-1	luminal epithelium:	n/a	chr21:17496934-17496947
15	USF1	chr21:17496708-17497544	ECC-1	luminal epithelium:	n/a	n/a
16	MAFK	chr21:17496524-17497661	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr21:17496656-17497952	Hela-S3	cervix:	n/a	n/a
18	USF2	chr21:17496765-17497511	Hela-S3	cervix:	n/a	chr21:17497302-17497313
19	CEBPB	chr21:17496438-17497897	Hela-S3	cervix:	n/a	chr21:17496934-17496947
20	MAX	chr21:17496721-17497905	Hela-S3	cervix:	n/a	n/a
21	TCF12	chr21:17496497-17497493	ECC-1	luminal epithelium:	n/a	n/a
22	RFX5	chr21:17496444-17497902	Hela-S3	cervix:	n/a	chr21:17496529-17496537
23	POLR2A	chr21:17496929-17497474	Hela-S3	cervix:	n/a	n/a
24	EP300	chr21:17496521-17497676	Hela-S3	cervix:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
25	TAF1	chr21:17497154-17497438	Hela-S3	cervix:	n/a	n/a
26	FOS	chr21:17496640-17497451	MCF10A-Er-Src	breast:	n/a	chr21:17497426-17497435
27	RCOR1	chr21:17496585-17497473	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr21:17496590-17497438	MCF10A-Er-Src	breast:	n/a	n/a
29	NFIC	chr21:17496313-17497579	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr21:17497009-17497504	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr21:17496772-17497477	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr21:17496943-17497899	Hela-S3	cervix:	n/a	n/a
33	MAX	chr21:17496664-17497455	ECC-1	luminal epithelium:	n/a	n/a
34	FOS	chr21:17496627-17497411	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr21:17497102-17497468	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RPS26P5	TF binding region

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10222055	1.00[EUR][1000 genomes]
rs28424182	1.00[EUR][1000 genomes]
rs28886124	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58748147	1.00[EUR][1000 genomes]
rs61645626	1.00[EUR][1000 genomes]
rs73367165	1.00[EUR][1000 genomes]
rs7349006	1.00[EUR][1000 genomes]
rs73893205	1.00[EUR][1000 genomes]
rs73893207	1.00[EUR][1000 genomes]
rs9808767	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9974231	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9984291	1.00[EUR][1000 genomes]
rs9985009	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17496000-17497600	Enhancers	Fetal Lung	lung
2	chr21:17496000-17497800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:17496200-17497600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:17496200-17497600	Enhancers	NH-A	brain
5	chr21:17496200-17497800	Enhancers	NHLF	lung
6	chr21:17496600-17497800	Enhancers	NHEK	skin
7	chr21:17496800-17497600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:17496800-17498000	Flanking Active TSS	NHDF-Ad	bronchial
9	chr21:17497000-17497600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:17497000-17497800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr21:17497000-17497800	Flanking Active TSS	Osteobl	bone
12	chr21:17497000-17498000	Active TSS	Adipose Nuclei	Adipose
13	chr21:17497000-17498000	Active TSS	Right Atrium	heart
14	chr21:17497000-17498400	Active TSS	Hela-S3	cervix
15	chr21:17497200-17497600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:17497200-17497800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:17497200-17498400	Weak transcription	Rectal Smooth Muscle	rectum

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