Variant report

Variant	rs75139572
Chromosome Location	chr17:20514805-20514806
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	MAX	chr17:20514804-20515051	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr17:20514732-20514926	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr17:20514680-20514830	GM12865	blood:	n/a	n/a
4	RAD21	chr17:20514645-20515003	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr17:20514704-20514988	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr17:20514661-20514911	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr17:20514751-20514875	GM12892	blood:	n/a	n/a
8	BHLHE40	chr17:20514794-20515059	K562	blood:	n/a	chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937
9	CTCF	chr17:20514740-20514890	HepG2	liver:	n/a	n/a
10	MAX	chr17:20514701-20515020	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:20514760-20514910	GM12868	blood:	n/a	n/a
12	CTCF	chr17:20514758-20514893	MCF-7	breast:	n/a	n/a
13	USF1	chr17:20514749-20515003	ECC-1	luminal epithelium:	n/a	chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937
14	CTCF	chr17:20514642-20514932	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr17:20514766-20514861	MCF-7	breast:	n/a	n/a
16	CTCF	chr17:20514740-20514883	GM12891	blood:	n/a	n/a
17	CTCF	chr17:20514680-20514830	GM12875	blood:	n/a	n/a
18	CTCF	chr17:20514760-20514910	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr17:20514773-20514830	GM19238	blood:	n/a	n/a
20	CTCF	chr17:20514768-20514848	GM12878	blood:	n/a	n/a
21	CTCF	chr17:20514760-20514910	HCT-116	colon:	n/a	n/a
22	CTCF	chr17:20514762-20514838	K562	blood:	n/a	n/a
23	CTCF	chr17:20514740-20514890	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr17:20514740-20514890	HEK293	kidney:	n/a	n/a
25	CTCF	chr17:20514769-20514860	MCF-7	breast:	n/a	n/a
26	CTCF	chr17:20514740-20514890	SK-N-SH_RA	brain:	n/a	n/a
27	MYC	chr17:20514772-20514919	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:20514720-20514870	A549	lung:	n/a	n/a
29	CTCF	chr17:20514763-20514895	K562	blood:	n/a	n/a
30	RAD21	chr17:20514626-20515015	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr17:20514740-20514890	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr17:20514680-20514830	GM12870	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235546	TF binding region
ENSG00000226096	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1059504	chr17:20222112-20581021	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv2758445	chr17:20287295-20699840	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	esv2758680	chr17:20287295-20699840	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv907873	chr17:20350968-20550250	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv907874	chr17:20368237-20550250	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv907875	chr17:20368237-20627240	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1058200	chr17:20369441-20598672	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv907876	chr17:20407149-20550250	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv907877	chr17:20417975-20536997	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv907878	chr17:20417975-20550250	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv907879	chr17:20417975-20555730	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv907880	chr17:20417975-20591928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv907881	chr17:20417975-20613642	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1064966	chr17:20431168-20609271	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv907882	chr17:20432757-20608648	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv510703	chr17:20441553-20568237	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
22	nsv457705	chr17:20483882-20527718	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv574596	chr17:20483882-20527718	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv907883	chr17:20487047-20613642	Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv833400	chr17:20497681-20649658	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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