Variant report

Variant	rs559866280
Chromosome Location	chr3:21794543-21794544
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	FOS	chr3:21794306-21794611	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr3:21794316-21794573	MCF-7	breast:	n/a	n/a
3	RAD21	chr3:21794255-21794602	H1-hESC	embryonic stem cell:	n/a	chr3:21794444-21794456
4	ZNF143	chr3:21794270-21794633	GM12878	blood:	n/a	n/a
5	MYC	chr3:21794345-21794577	NB4	blood:	n/a	chr3:21794436-21794446
6	CTCF	chr3:21794247-21794629	GM12878	blood:	n/a	n/a
7	CTCF	chr3:21794337-21794564	GM12878	blood:	n/a	n/a
8	CTCF	chr3:21794440-21794590	GM12869	blood:	n/a	n/a
9	STAT3	chr3:21794347-21794604	MCF10A-Er-Src	breast:	n/a	n/a
10	CTCF	chr3:21794420-21794570	A549	lung:	n/a	n/a
11	CTCF	chr3:21794400-21794550	GM12872	blood:	n/a	n/a
12	RAD21	chr3:21794241-21794654	H1-hESC	embryonic stem cell:	n/a	chr3:21794444-21794456
13	CTCF	chr3:21794317-21794560	ProgFib	skin:	n/a	n/a
14	CTCF	chr3:21794440-21794590	HCT-116	colon:	n/a	n/a
15	CTCF	chr3:21794301-21794573	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:21794400-21794550	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr3:21794400-21794550	AG04450	lung:	n/a	n/a
18	CTCF	chr3:21794309-21794580	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr3:21794400-21794550	GM12865	blood:	n/a	n/a
20	EP300	chr3:21794225-21794589	SK-N-SH_RA	brain:	n/a	n/a
21	RAD21	chr3:21794269-21794626	IMR90	lung:	n/a	chr3:21794444-21794456
22	CTCF	chr3:21794291-21794623	Medullo	brain:	n/a	n/a
23	CTCF	chr3:21794334-21794546	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr3:21793366-21794946	SK-N-SH	brain:	n/a	chr3:21794209-21794218
25	CTCF	chr3:21794420-21794570	BJ	skin:	n/a	n/a
26	POLR2A	chr3:21794509-21794650	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr3:21794347-21794548	ECC-1	luminal epithelium:	n/a	n/a
28	CTCF	chr3:21794420-21794570	HFF	foreskin:	n/a	n/a
29	RAD21	chr3:21794281-21794629	GM12878	blood:	n/a	chr3:21794444-21794456
30	MAX	chr3:21794301-21794611	NB4	blood:	n/a	chr3:21794436-21794446
31	CTCF	chr3:21794440-21794590	HVMF	connective:	n/a	n/a
32	CTCF	chr3:21794400-21794550	HL-60	blood:	n/a	n/a
33	CTCF	chr3:21794400-21794550	GM12870	blood:	n/a	n/a
34	RAD21	chr3:21794172-21794688	SK-N-SH_RA	brain:	n/a	chr3:21794444-21794456
35	RAD21	chr3:21791389-21796924	SK-N-SH	brain:	n/a	chr3:21794444-21794456
36	SMC3	chr3:21794281-21794599	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr3:21794250-21794630	ECC-1	luminal epithelium:	n/a	chr3:21794444-21794456
38	CTCF	chr3:21794232-21794590	MCF-7	breast:	n/a	n/a
39	CTCF	chr3:21794328-21794546	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:21794304-21794577	LNCaP	prostate:	n/a	n/a
41	ZNF143	chr3:21794313-21794600	H1-hESC	embryonic stem cell:	n/a	n/a
42	FOS	chr3:21794262-21794753	MCF10A-Er-Src	breast:	n/a	n/a
43	RAD21	chr3:21794292-21794580	MCF-7	breast:	n/a	chr3:21794444-21794456
44	CTCF	chr3:21794264-21794620	K562	blood:	n/a	n/a
45	CTCF	chr3:21794316-21794572	HUVEC	blood vessel:	n/a	n/a
46	MXI1	chr3:21791097-21795137	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr3:21794400-21794550	HCFaa	heart:	n/a	n/a
48	CTCF	chr3:21794400-21794550	AG09309	skin:	n/a	n/a
49	CTCF	chr3:21794317-21794569	K562	blood:	n/a	n/a
50	MAX	chr3:21794317-21794639	H1-hESC	embryonic stem cell:	n/a	chr3:21794436-21794446

No.	Distal block	Cell Line	Cell type
1	chr3:21793963..21794585-chr3:21876272..21877179,2	MCF-7	breast:
2	chr3:21794398..21795153-chr3:22159350..22159975,2	MCF-7	breast:
3	chr3:21793981..21794891-chr3:21935742..21936689,4	MCF-7	breast:

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1007665	chr3:21781727-21809266	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011725	chr3:21786893-21804428	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1015075	chr3:21791806-21809266	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv15440	chr3:21793027-21795819	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv876613	chr3:21794174-21825247	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21793200-21795600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21793200-21795800	Weak transcription	HSMMtube	muscle
3	chr3:21793400-21794800	Weak transcription	Fetal Heart	heart
4	chr3:21793400-21795800	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:21793400-21801600	Weak transcription	Fetal Lung	lung
6	chr3:21794400-21794600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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