Variant report

Variant	rs548611862
Chromosome Location	chr17:60351532-60351533
allele	A/C
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	POLR2A	chr17:60350399-60351909	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr17:60350236-60351551	Hela-S3	cervix:	n/a	n/a
3	SIX5	chr17:60351516-60351796	K562	blood:	n/a	n/a
4	SPI1	chr17:60351473-60351667	GM12878	blood:	n/a	n/a
5	FOSL2	chr17:60347209-60353906	HepG2	liver:	n/a	chr17:60347245-60347257 chr17:60352632-60352643 chr17:60352137-60352146 chr17:60348579-60348589
6	TCF3	chr17:60351116-60351883	GM12878	blood:	n/a	chr17:60351625-60351639
7	JUND	chr17:60351484-60351684	HepG2	liver:	n/a	n/a
8	POU2F2	chr17:60351498-60351916	GM12878	blood:	n/a	n/a
9	JUND	chr17:60351530-60351988	HepG2	liver:	n/a	n/a
10	NR3C1	chr17:60342123-60352272	A549	lung:	n/a	chr17:60349160-60349173 chr17:60344124-60344137 chr17:60348422-60348429 chr17:60343424-60343441 chr17:60344344-60344359 chr17:60348437-60348450 chr17:60345859-60345872 chr17:60352154-60352180 chr17:60346023-60346036 chr17:60343391-60343404 chr17:60344393-60344400 chr17:60350692-60350705
11	NR3C1	chr17:60339947-60352039	A549	lung:	n/a	chr17:60340696-60340705 chr17:60349160-60349173 chr17:60344124-60344137 chr17:60348422-60348429 chr17:60343424-60343441 chr17:60341027-60341040 chr17:60344344-60344359 chr17:60341357-60341383 chr17:60348437-60348450 chr17:60345859-60345872 chr17:60346023-60346036 chr17:60343391-60343404 chr17:60341357-60341383 chr17:60344393-60344400 chr17:60350692-60350705

Variant related genes	Relation type
TBC1D3P2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 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	esv1795379	chr17:60325534-60352980	Inactive region	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv1797460	chr17:60328522-60354665	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv1810748	chr17:60328522-60354665	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
26	esv1819938	chr17:60328522-60358852	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
27	esv1801570	chr17:60328722-60352980	Inactive region	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
28	esv1807289	chr17:60328722-60352980	Inactive region	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
29	esv1807810	chr17:60328722-60352980	Inactive region	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
30	esv1820753	chr17:60328722-60352980	Inactive region	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv1824930	chr17:60328722-60352980	Inactive region	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
32	esv1825656	chr17:60328722-60352980	Inactive region	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
33	esv1846734	chr17:60330736-60352980	Inactive region	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv962357	chr17:60336659-60369016	Enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv960559	chr17:60350509-60354528	Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
36	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
37	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

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
chromosomal regions: chr1:12345-34567

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