Variant report

Variant	rs7349006
Chromosome Location	chr21:17497141-17497142
allele	C/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	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	STAT3	chr21:17496710-17497267	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF12	chr21:17496543-17497314	A549	lung:	n/a	n/a
6	STAT3	chr21:17496663-17497322	MCF10A-Er-Src	breast:	n/a	n/a
7	USF1	chr21:17497051-17497540	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr21:17496478-17497357	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr21:17496293-17497510	ECC-1	luminal epithelium:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
10	EP300	chr21:17496201-17498144	SK-N-SH	brain:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
11	STAT3	chr21:17496642-17497322	MCF10A-Er-Src	breast:	n/a	n/a
12	BRCA1	chr21:17496695-17497959	Hela-S3	cervix:	n/a	chr21:17496924-17496931
13	RAD21	chr21:17496745-17497386	Hela-S3	cervix:	n/a	n/a
14	USF1	chr21:17497135-17497402	SK-N-SH_RA	brain:	n/a	n/a
15	PRDM1	chr21:17496579-17497188	Hela-S3	cervix:	n/a	n/a
16	TEAD4	chr21:17496453-17497358	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr21:17496680-17497456	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr21:17497058-17497462	Hela-S3	cervix:	n/a	n/a
19	JUND	chr21:17496645-17497505	Hela-S3	cervix:	n/a	chr21:17497426-17497435
20	CEBPB	chr21:17496590-17497506	IMR90	lung:	n/a	chr21:17496934-17496947
21	JUN	chr21:17496486-17497488	Hela-S3	cervix:	n/a	chr21:17497426-17497435
22	CEBPB	chr21:17496548-17497388	ECC-1	luminal epithelium:	n/a	chr21:17496934-17496947
23	TBP	chr21:17496693-17497948	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr21:17496639-17497197	A549	lung:	n/a	chr21:17496934-17496947
25	CEBPB	chr21:17496483-17497406	ECC-1	luminal epithelium:	n/a	chr21:17496934-17496947
26	NFIC	chr21:17496412-17497253	ECC-1	luminal epithelium:	n/a	n/a
27	USF1	chr21:17496708-17497544	ECC-1	luminal epithelium:	n/a	n/a
28	FOXM1	chr21:17496380-17497386	ECC-1	luminal epithelium:	n/a	n/a
29	MAFK	chr21:17496524-17497661	Hela-S3	cervix:	n/a	n/a
30	STAT3	chr21:17496571-17497314	MCF10A-Er-Src	breast:	n/a	n/a
31	NFIC	chr21:17496672-17497160	SK-N-SH	brain:	n/a	n/a
32	MXI1	chr21:17496656-17497952	Hela-S3	cervix:	n/a	n/a
33	FOS	chr21:17496659-17497398	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXM1	chr21:17496344-17497381	ECC-1	luminal epithelium:	n/a	n/a
35	USF2	chr21:17496765-17497511	Hela-S3	cervix:	n/a	chr21:17497302-17497313
36	ESR1	chr21:17496601-17497162	ECC-1	luminal epithelium:	n/a	n/a
37	EP300	chr21:17496476-17497262	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr21:17496438-17497897	Hela-S3	cervix:	n/a	chr21:17496934-17496947
39	MAX	chr21:17496721-17497905	Hela-S3	cervix:	n/a	n/a
40	FOSL2	chr21:17496636-17497195	A549	lung:	n/a	n/a
41	EP300	chr21:17496593-17497190	A549	lung:	n/a	n/a
42	CEBPB	chr21:17496582-17497294	A549	lung:	n/a	chr21:17496934-17496947
43	TCF12	chr21:17496497-17497493	ECC-1	luminal epithelium:	n/a	n/a
44	RFX5	chr21:17496444-17497902	Hela-S3	cervix:	n/a	chr21:17496529-17496537
45	POLR2A	chr21:17496929-17497474	Hela-S3	cervix:	n/a	n/a
46	EP300	chr21:17496521-17497676	Hela-S3	cervix:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
47	TCF12	chr21:17496549-17497218	ECC-1	luminal epithelium:	n/a	n/a
48	FOS	chr21:17496640-17497451	MCF10A-Er-Src	breast:	n/a	chr21:17497426-17497435
49	RCOR1	chr21:17496585-17497473	Hela-S3	cervix:	n/a	n/a
50	FOS	chr21:17496650-17497354	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RPS26P5	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10222055	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28424182	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28886124	1.00[EUR][1000 genomes]
rs58748147	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61645626	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367165	1.00[EUR][1000 genomes]
rs73893205	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73893207	1.00[EUR][1000 genomes]
rs9808767	1.00[EUR][1000 genomes]
rs9974231	1.00[EUR][1000 genomes]
rs9976336	1.00[EUR][1000 genomes]
rs9979037	0.85[AMR][1000 genomes]
rs9984291	0.96[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9985009	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];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:24 , 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	chr21:17496600-17497400	Enhancers	A549	lung
7	chr21:17496600-17497800	Enhancers	NHEK	skin
8	chr21:17496800-17497200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:17496800-17497200	Enhancers	Rectal Smooth Muscle	rectum
10	chr21:17496800-17497600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:17496800-17498000	Flanking Active TSS	NHDF-Ad	bronchial
12	chr21:17497000-17497200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr21:17497000-17497400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:17497000-17497400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:17497000-17497400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:17497000-17497400	Enhancers	Colon Smooth Muscle	Colon
17	chr21:17497000-17497400	Enhancers	HMEC	breast
18	chr21:17497000-17497400	Enhancers	HSMM	muscle
19	chr21:17497000-17497600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:17497000-17497800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr21:17497000-17497800	Flanking Active TSS	Osteobl	bone
22	chr21:17497000-17498000	Active TSS	Adipose Nuclei	Adipose
23	chr21:17497000-17498000	Active TSS	Right Atrium	heart
24	chr21:17497000-17498400	Active TSS	Hela-S3	cervix

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