Variant report

Variant	rs554053315
Chromosome Location	chr17:20516025-20516026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20516019-20516069	AG04450	lung:	fetal
2	chr17:20516019-20516069	U87	brain:	n/a
3	chr17:20516019-20516069	Jurkat	blood:	n/a
4	chr17:20516019-20516069	HEK293	kidney:	embryo
5	chr17:20516019-20516069	ECC-1	luminal epithelium:	n/a
6	chr17:20516019-20516069	H1-hESC	embryonic stem cell:	embryo
7	chr17:20516019-20516069	SKMC	muscle:	n/a
8	chr17:20516019-20516069	HCF	heart:	n/a
9	chr17:20516019-20516069	K562	blood:	n/a
10	chr17:20516019-20516069	NHDF-neo	bronchial:	n/a
11	chr17:20516019-20516069	HRPEpiC	eye:	n/a
12	chr17:20516019-20516069	HL-60	blood:	n/a
13	chr17:20516019-20516069	HCT-116	colon:	n/a
14	chr17:20516019-20516069	GM12878	blood:	n/a
15	chr17:20516019-20516069	HPAEpiC	pulmonary alveolar:	n/a
16	chr17:20516019-20516069	Hepatocyte	liver:	n/a
17	chr17:20516019-20516069	AG09309	skin:	n/a
18	chr17:20516019-20516069	ovcar-3	ovarian:	n/a
19	chr17:20516019-20516069	LNCaP	prostate:	n/a
20	chr17:20516019-20516069	GM12892	blood:	n/a
21	chr17:20516019-20516069	PrEC	prostate:	n/a
22	chr17:20516019-20516069	SK-N-SH	brain:	n/a
23	chr17:20516019-20516069	AG09319	gingival:	n/a
24	chr17:20516019-20516069	Hela-S3	cervix:	n/a
25	chr17:20516019-20516069	NH-A	brain:	n/a
26	chr17:20516019-20516069	HCPEpiC	choroid plexus:	n/a
27	chr17:20516019-20516069	HepG2	liver:	n/a
28	chr17:20516019-20516069	SK-N-SH_RA	brain:	n/a
29	chr17:20516019-20516069	AG04449	skin:	fetal
30	chr17:20516019-20516069	NHBE	bronchial:	n/a
31	chr17:20516019-20516069	HNPCEpiC	eye:	n/a
32	chr17:20516019-20516069	AoSMC	blood vessel:	n/a
33	chr17:20516019-20516069	MCF-7	breast:	n/a
34	chr17:20516019-20516069	GM12891	blood:	n/a
35	chr17:20516019-20516069	RPTEC	kidney:	n/a
36	chr17:20516019-20516069	HAEpiC	amniotic membrane:	n/a
37	chr17:20516019-20516069	NT2-D1	testis:	n/a
38	chr17:20516019-20516069	HRE	kidney:	n/a
39	chr17:20516019-20516069	IMR90	lung:	fetal
40	chr17:20516019-20516069	CMK	blood:	n/a
41	chr17:20516019-20516069	HMEC	breast:	n/a
42	chr17:20516019-20516069	MCF10A-Er-Src	breast:	n/a
43	chr17:20516019-20516069	AG10803	skin:	n/a
44	chr17:20516019-20516069	HEEpiC	esophagus:	n/a
45	chr17:20516019-20516069	Caco-2	colon:	n/a
46	chr17:20516019-20516069	GM06990	blood:	n/a
47	chr17:20516019-20516069	SAEC	small airway:	n/a
48	chr17:20516019-20516069	HCM	heart:	n/a
49	chr17:20516019-20516069	NB4	blood:	n/a
50	chr17:20516019-20516069	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000226096	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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:

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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