Variant report

Variant	rs73367140
Chromosome Location	chr21:17496810-17496811
allele	G/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	chr21:17496577-17497094	MCF-7	breast:	n/a	chr21:17496934-17496947
2	MYC	chr21:17496584-17497677	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr21:17496461-17497058	SK-N-MC	brain:	n/a	n/a
4	TCF7L2	chr21:17496425-17497454	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr21:17496647-17497476	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr21:17496710-17497267	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF12	chr21:17496543-17497314	A549	lung:	n/a	n/a
8	STAT3	chr21:17496663-17497322	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr21:17496478-17497357	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr21:17496606-17497115	A549	lung:	n/a	n/a
11	EP300	chr21:17496293-17497510	ECC-1	luminal epithelium:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
12	EP300	chr21:17496201-17498144	SK-N-SH	brain:	n/a	chr21:17497364-17497378 chr21:17497358-17497372
13	STAT3	chr21:17496642-17497322	MCF10A-Er-Src	breast:	n/a	n/a
14	BRCA1	chr21:17496695-17497959	Hela-S3	cervix:	n/a	chr21:17496924-17496931
15	RAD21	chr21:17496745-17497386	Hela-S3	cervix:	n/a	n/a
16	PRDM1	chr21:17496579-17497188	Hela-S3	cervix:	n/a	n/a
17	PBX3	chr21:17496732-17497058	SK-N-SH	brain:	n/a	n/a
18	TEAD4	chr21:17496453-17497358	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr21:17496680-17497456	Hela-S3	cervix:	n/a	n/a
20	JUND	chr21:17496645-17497505	Hela-S3	cervix:	n/a	chr21:17497426-17497435
21	CEBPB	chr21:17496590-17497506	IMR90	lung:	n/a	chr21:17496934-17496947
22	NR3C1	chr21:17496711-17497007	ECC-1	luminal epithelium:	n/a	n/a
23	JUN	chr21:17496486-17497488	Hela-S3	cervix:	n/a	chr21:17497426-17497435
24	CEBPB	chr21:17496548-17497388	ECC-1	luminal epithelium:	n/a	chr21:17496934-17496947
25	TBP	chr21:17496693-17497948	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr21:17496639-17497197	A549	lung:	n/a	chr21:17496934-17496947
27	CEBPB	chr21:17496483-17497406	ECC-1	luminal epithelium:	n/a	chr21:17496934-17496947
28	NFIC	chr21:17496412-17497253	ECC-1	luminal epithelium:	n/a	n/a
29	USF1	chr21:17496708-17497544	ECC-1	luminal epithelium:	n/a	n/a
30	FOXM1	chr21:17496380-17497386	ECC-1	luminal epithelium:	n/a	n/a
31	MAFK	chr21:17496524-17497661	Hela-S3	cervix:	n/a	n/a
32	STAT3	chr21:17496571-17497314	MCF10A-Er-Src	breast:	n/a	n/a
33	NFIC	chr21:17496672-17497160	SK-N-SH	brain:	n/a	n/a
34	MXI1	chr21:17496656-17497952	Hela-S3	cervix:	n/a	n/a
35	FOS	chr21:17496659-17497398	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXM1	chr21:17496344-17497381	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr21:17496744-17497020	MCF-7	breast:	n/a	chr21:17496934-17496947
38	MAFK	chr21:17496729-17497047	IMR90	lung:	n/a	n/a
39	USF2	chr21:17496765-17497511	Hela-S3	cervix:	n/a	chr21:17497302-17497313
40	ESR1	chr21:17496601-17497162	ECC-1	luminal epithelium:	n/a	n/a
41	TCF7L2	chr21:17496531-17496889	Hela-S3	cervix:	n/a	n/a
42	EP300	chr21:17496476-17497262	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr21:17496438-17497897	Hela-S3	cervix:	n/a	chr21:17496934-17496947
44	MAX	chr21:17496721-17497905	Hela-S3	cervix:	n/a	n/a
45	FOSL2	chr21:17496636-17497195	A549	lung:	n/a	n/a
46	EP300	chr21:17496593-17497190	A549	lung:	n/a	n/a
47	CEBPB	chr21:17496582-17497294	A549	lung:	n/a	chr21:17496934-17496947
48	TCF12	chr21:17496497-17497493	ECC-1	luminal epithelium:	n/a	n/a
49	RFX5	chr21:17496444-17497902	Hela-S3	cervix:	n/a	chr21:17496529-17496537
50	EP300	chr21:17496521-17497676	Hela-S3	cervix:	n/a	chr21:17497364-17497378 chr21:17497358-17497372

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17490784..17492759-chr21:17494985..17496908,2	K562	blood:

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]
rs57410031	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59616604	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352488	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352495	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354406	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354419	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73354423	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73358630	0.86[AFR][1000 genomes]
rs73367122	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73367146	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73367149	0.84[AFR][1000 genomes];1.00[AMR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17490800-17497000	Weak transcription	Colon Smooth Muscle	Colon
2	chr21:17494400-17497000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17494800-17497000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:17495800-17497000	Weak transcription	Adipose Nuclei	Adipose
5	chr21:17496000-17497000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:17496000-17497600	Enhancers	Fetal Lung	lung
7	chr21:17496000-17497800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:17496200-17497000	Enhancers	Osteobl	bone
9	chr21:17496200-17497600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:17496200-17497600	Enhancers	NH-A	brain
11	chr21:17496200-17497800	Enhancers	NHLF	lung
12	chr21:17496600-17497400	Enhancers	A549	lung
13	chr21:17496600-17497800	Enhancers	NHEK	skin
14	chr21:17496800-17497000	Weak transcription	Hela-S3	cervix
15	chr21:17496800-17497200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:17496800-17497200	Enhancers	Rectal Smooth Muscle	rectum
17	chr21:17496800-17497600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:17496800-17498000	Flanking Active TSS	NHDF-Ad	bronchial

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