Variant report

Variant	rs116191724
Chromosome Location	chr21:17565360-17565361
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	USF2	chr21:17565327-17565538	Hela-S3	cervix:	n/a	n/a
2	NFYB	chr21:17565317-17565614	Hela-S3	cervix:	n/a	chr21:17565498-17565508 chr21:17565508-17565518
3	STAT3	chr21:17565283-17565619	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr21:17565179-17565696	A549	lung:	n/a	n/a
5	FOS	chr21:17565217-17565648	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr21:17565305-17565633	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr21:17565231-17565622	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr21:17565310-17565627	MCF10A-Er-Src	breast:	n/a	n/a
9	RAD21	chr21:17565250-17565576	Hela-S3	cervix:	n/a	n/a
10	MYC	chr21:17565288-17565588	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFK	chr21:17565215-17565615	Hela-S3	cervix:	n/a	chr21:17565399-17565409 chr21:17565399-17565408
12	MXI1	chr21:17565285-17565565	Hela-S3	cervix:	n/a	n/a
13	FOS	chr21:17565197-17565620	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr21:17565347-17565547	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr21:17565209-17566054	Hela-S3	cervix:	n/a	chr21:17565801-17565810
16	CEBPB	chr21:17565324-17565608	ECC-1	luminal epithelium:	n/a	n/a
17	JUN	chr21:17565265-17565727	Hela-S3	cervix:	n/a	n/a
18	TBP	chr21:17565250-17565649	Hela-S3	cervix:	n/a	n/a
19	E2F6	chr21:17565321-17565636	A549	lung:	n/a	n/a
20	STAT3	chr21:17565211-17565693	Hela-S3	cervix:	n/a	n/a
21	STAT1	chr21:17565261-17565629	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr21:17565334-17565604	A549	lung:	n/a	n/a
23	MAFK	chr21:17565335-17565479	HepG2	liver:	n/a	chr21:17565399-17565409 chr21:17565399-17565408
24	GTF2F1	chr21:17565258-17565566	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr21:17565221-17565674	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr21:17565274-17565550	Hela-S3	cervix:	n/a	n/a
27	MAX	chr21:17565158-17565667	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr21:17565274-17565667	ECC-1	luminal epithelium:	n/a	n/a
29	NFYA	chr21:17565359-17565606	Hela-S3	cervix:	n/a	chr21:17565498-17565508 chr21:17565508-17565518
30	RCOR1	chr21:17565198-17565616	Hela-S3	cervix:	n/a	n/a
31	MAX	chr21:17565219-17565592	Hela-S3	cervix:	n/a	n/a
32	STAT3	chr21:17565251-17565663	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr21:17565214-17565640	MCF10A-Er-Src	breast:	n/a	n/a
34	SMC3	chr21:17565241-17565587	Hela-S3	cervix:	n/a	n/a
35	MAX	chr21:17565197-17565579	ECC-1	luminal epithelium:	n/a	n/a
36	MAFK	chr21:17565316-17565519	IMR90	lung:	n/a	chr21:17565399-17565409 chr21:17565399-17565408
37	MYC	chr21:17565198-17565605	Hela-S3	cervix:	n/a	n/a
38	MAX	chr21:17565245-17565671	Hela-S3	cervix:	n/a	n/a
39	RFX5	chr21:17565269-17565643	Hela-S3	cervix:	n/a	chr21:17565509-17565518
40	JUND	chr21:17565211-17565679	Hela-S3	cervix:	n/a	n/a
41	FOS	chr21:17565231-17565646	MCF10A-Er-Src	breast:	n/a	n/a
42	CEBPB	chr21:17565247-17565642	A549	lung:	n/a	n/a
43	STAT3	chr21:17565300-17565633	MCF10A-Er-Src	breast:	n/a	n/a
44	CEBPB	chr21:17565317-17565572	IMR90	lung:	n/a	n/a
45	MYC	chr21:17565269-17565617	MCF10A-Er-Src	breast:	n/a	n/a
46	TEAD4	chr21:17565181-17565604	ECC-1	luminal epithelium:	n/a	n/a
47	CHD2	chr21:17565251-17565568	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
LINC00478	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	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	chr21:17553400-17566400	Weak transcription	Fetal Stomach	stomach
2	chr21:17558400-17566400	Weak transcription	Brain Anterior Caudate	brain
3	chr21:17559000-17571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:17559600-17566200	Weak transcription	Ovary	ovary
5	chr21:17559600-17566600	Weak transcription	Placenta	Placenta
6	chr21:17563000-17565400	Weak transcription	NHDF-Ad	bronchial
7	chr21:17563600-17567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:17564600-17566200	Enhancers	Hela-S3	cervix
9	chr21:17565000-17565600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:17565200-17565600	Enhancers	Fetal Intestine Large	intestine
11	chr21:17565200-17565800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:17565200-17565800	Enhancers	A549	lung
13	chr21:17565200-17566000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:17565200-17566200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:17565200-17566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:17565200-17566200	Enhancers	Fetal Kidney	kidney
17	chr21:17565200-17566600	Enhancers	HUES64 Cell Line	embryonic stem cell

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