Variant report

Variant	rs547258906
Chromosome Location	chr17:60353213-60353214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr17:60352364-60353436	K562	blood:	n/a	n/a
2	PAX5	chr17:60352381-60353372	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:60352812-60353403	Hela-S3	cervix:	n/a	n/a
4	ZBTB33	chr17:60353106-60353692	K562	blood:	n/a	n/a
5	POU2F2	chr17:60352228-60353446	GM12878	blood:	n/a	n/a
6	PAX5	chr17:60352619-60353406	GM12878	blood:	n/a	n/a
7	FOSL2	chr17:60347209-60353906	HepG2	liver:	n/a	chr17:60347245-60347257 chr17:60352632-60352643 chr17:60352137-60352146 chr17:60348579-60348589
8	POLR2A	chr17:60352764-60353424	GM12878	blood:	n/a	n/a
9	USF1	chr17:60353126-60353363	HepG2	liver:	n/a	n/a
10	GABPA	chr17:60353185-60353381	Hela-S3	cervix:	n/a	n/a
11	SPI1	chr17:60353122-60353359	GM12878	blood:	n/a	chr17:60353264-60353277 chr17:60353266-60353275
12	JUND	chr17:60353145-60353395	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:60352073-60353906	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr17:60353005-60353408	Hela-S3	cervix:	n/a	n/a
15	REST	chr17:60352269-60353378	PANC-1	pancreas:	n/a	chr17:60353233-60353246 chr17:60353291-60353304
16	POLR2A	chr17:60352347-60353401	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr17:60353176-60353288	HepG2	liver:	n/a	n/a
18	SPI1	chr17:60353164-60353315	K562	blood:	n/a	chr17:60353264-60353277 chr17:60353266-60353275
19	POLR2A	chr17:60353107-60353254	H1-hESC	embryonic stem cell:	n/a	n/a
20	SPI1	chr17:60353177-60353371	K562	blood:	n/a	chr17:60353264-60353277 chr17:60353266-60353275
21	TCF3	chr17:60353162-60353443	GM12878	blood:	n/a	n/a
22	POLR2A	chr17:60352338-60353377	GM12878	blood:	n/a	n/a
23	SIX5	chr17:60352615-60353427	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60353177-60353227	HEK293	kidney:	embryo
2	chr17:60353177-60353227	AG09309	skin:	n/a
3	chr17:60353177-60353227	GM12891	blood:	n/a
4	chr17:60353177-60353227	K562	blood:	n/a
5	chr17:60353177-60353227	HPAEpiC	pulmonary alveolar:	n/a
6	chr17:60353177-60353227	HL-60	blood:	n/a
7	chr17:60353177-60353227	ovcar-3	ovarian:	n/a
8	chr17:60353177-60353227	Hela-S3	cervix:	n/a
9	chr17:60353177-60353227	HRCEpiC	kidney:	n/a
10	chr17:60353177-60353227	PANC-1	pancreas:	n/a
11	chr17:60353177-60353227	CMK	blood:	n/a
12	chr17:60353177-60353227	HMEC	breast:	n/a
13	chr17:60353177-60353227	PFSK-1	brain:	n/a
14	chr17:60353177-60353227	BE2_C	brain:	n/a
15	chr17:60353177-60353227	HCM	heart:	n/a
16	chr17:60353177-60353227	PrEC	prostate:	n/a
17	chr17:60353177-60353227	AG04449	skin:	fetal
18	chr17:60353177-60353227	T-47D	breast:	n/a
19	chr17:60353177-60353227	HCF	heart:	n/a
20	chr17:60353177-60353227	SAEC	small airway:	n/a
21	chr17:60353177-60353227	MCF-7	breast:	n/a
22	chr17:60353177-60353227	MCF10A-Er-Src	breast:	n/a
23	chr17:60353177-60353227	HAEpiC	amniotic membrane:	n/a
24	chr17:60353177-60353227	ProgFib	skin:	n/a
25	chr17:60353177-60353227	NHBE	bronchial:	n/a
26	chr17:60353177-60353227	NHDF-neo	bronchial:	n/a
27	chr17:60353177-60353227	HNPCEpiC	eye:	n/a
28	chr17:60353177-60353227	H1-hESC	embryonic stem cell:	embryo
29	chr17:60353177-60353227	HepG2	liver:	n/a
30	chr17:60353177-60353227	NT2-D1	testis:	n/a
31	chr17:60353177-60353227	U87	brain:	n/a
32	chr17:60353177-60353227	HIPEpiC	eye:	n/a
33	chr17:60353177-60353227	LNCaP	prostate:	n/a
34	chr17:60353177-60353227	HCT-116	colon:	n/a
35	chr17:60353177-60353227	AG10803	skin:	n/a
36	chr17:60353177-60353227	NH-A	brain:	n/a
37	chr17:60353177-60353227	AG04450	lung:	fetal
38	chr17:60353177-60353227	ECC-1	luminal epithelium:	n/a
39	chr17:60353177-60353227	GM12892	blood:	n/a
40	chr17:60353177-60353227	HUVEC	blood vessel:	n/a
41	chr17:60353177-60353227	AoSMC	blood vessel:	n/a
42	chr17:60353177-60353227	HRE	kidney:	n/a
43	chr17:60353177-60353227	GM12878	blood:	n/a
44	chr17:60353177-60353227	AG09319	gingival:	n/a
45	chr17:60353177-60353227	Caco-2	colon:	n/a
46	chr17:60353177-60353227	SK-N-SH	brain:	n/a
47	chr17:60353177-60353227	A549	lung:	n/a
48	chr17:60353177-60353227	GM19239	blood:	n/a
49	chr17:60353177-60353227	IMR90	lung:	fetal
50	chr17:60353177-60353227	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
TBC1D3P2	TF binding region
TBC1D3P2	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv575844	chr17:60199130-60434267	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1055856	chr17:60202722-60408137	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv543401	chr17:60202722-60408137	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv833508	chr17:60294681-60488271	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1831722	chr17:60295519-60366760	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv2758464	chr17:60295557-60472841	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv2758701	chr17:60295557-60472841	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv428350	chr17:60295557-60472841	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv14532	chr17:60295590-60357269	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1820302	chr17:60296308-60358852	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1829550	chr17:60297045-60353755	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1809765	chr17:60302217-60354665	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv1820956	chr17:60302217-60358852	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv1806307	chr17:60302417-60368351	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv9583	chr17:60324727-60358136	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv19625	chr17:60324979-60355111	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv1797460	chr17:60328522-60354665	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv1810748	chr17:60328522-60354665	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv1819938	chr17:60328522-60358852	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv962357	chr17:60336659-60369016	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv960559	chr17:60350509-60354528	Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv908676	chr17:60350509-60465161	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv908677	chr17:60350509-60504313	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	esv3437570	chr17:60352170-60355368	Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No data

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