Variant report

Variant	rs542304631
Chromosome Location	chr17:16610133-16610134
allele	A/G
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	chr17:16610132-16610182	AG09309	skin:	n/a
2	chr17:16610132-16610182	NT2-D1	testis:	n/a
3	chr17:16610132-16610182	HCT-116	colon:	n/a
4	chr17:16610132-16610182	Jurkat	blood:	n/a
5	chr17:16610132-16610182	LNCaP	prostate:	n/a
6	chr17:16610132-16610182	HIPEpiC	eye:	n/a
7	chr17:16610132-16610182	HRPEpiC	eye:	n/a
8	chr17:16610132-16610182	HMEC	breast:	n/a
9	chr17:16610132-16610182	SK-N-MC	brain:	n/a
10	chr17:16610132-16610182	HEEpiC	esophagus:	n/a
11	chr17:16610132-16610182	SK-N-SH_RA	brain:	n/a
12	chr17:16610132-16610182	HEK293	kidney:	embryo
13	chr17:16610132-16610182	AG04450	lung:	fetal
14	chr17:16610132-16610182	AG09319	gingival:	n/a
15	chr17:16610132-16610182	BJ	skin:	n/a
16	chr17:16610132-16610182	GM12891	blood:	n/a
17	chr17:16610132-16610182	HAEpiC	amniotic membrane:	n/a
18	chr17:16610132-16610182	AoSMC	blood vessel:	n/a
19	chr17:16610132-16610182	HCM	heart:	n/a
20	chr17:16610132-16610182	H1-hESC	embryonic stem cell:	embryo
21	chr17:16610132-16610182	NB4	blood:	n/a
22	chr17:16610132-16610182	Hepatocyte	liver:	n/a
23	chr17:16610132-16610182	CMK	blood:	n/a
24	chr17:16610132-16610182	GM19239	blood:	n/a
25	chr17:16610132-16610182	A549	lung:	n/a
26	chr17:16610132-16610182	Caco-2	colon:	n/a
27	chr17:16610132-16610182	GM12878	blood:	n/a
28	chr17:16610132-16610182	NHBE	bronchial:	n/a
29	chr17:16610132-16610182	PrEC	prostate:	n/a
30	chr17:16610132-16610182	RPTEC	kidney:	n/a
31	chr17:16610132-16610182	HepG2	liver:	n/a
32	chr17:16610132-16610182	K562	blood:	n/a
33	chr17:16610132-16610182	HRCEpiC	kidney:	n/a
34	chr17:16610132-16610182	HNPCEpiC	eye:	n/a
35	chr17:16610132-16610182	BE2_C	brain:	n/a
36	chr17:16610132-16610182	HCF	heart:	n/a
37	chr17:16610132-16610182	IMR90	lung:	fetal
38	chr17:16610132-16610182	HRE	kidney:	n/a
39	chr17:16610132-16610182	T-47D	breast:	n/a
40	chr17:16610132-16610182	AG10803	skin:	n/a
41	chr17:16610132-16610182	SKMC	muscle:	n/a
42	chr17:16610132-16610182	GM06990	blood:	n/a
43	chr17:16610132-16610182	ProgFib	skin:	n/a
44	chr17:16610132-16610182	PFSK-1	brain:	n/a
45	chr17:16610132-16610182	ECC-1	luminal epithelium:	n/a
46	chr17:16610132-16610182	Hela-S3	cervix:	n/a
47	chr17:16610132-16610182	SK-N-SH	brain:	n/a
48	chr17:16610132-16610182	SAEC	small airway:	n/a
49	chr17:16610132-16610182	NH-A	brain:	n/a
50	chr17:16610132-16610182	AG04449	skin:	fetal

No data

Variant related genes	Relation type
CCDC144A	CpG island
RN7SL620P	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
2	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv2756642	chr17:16571504-16734163	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv2757653	chr17:16571504-16764830	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2635467	chr17:16589774-16757904	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv978373	chr17:16594279-16649044	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv833378	chr17:16596129-16750963	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv907721	chr17:16599123-16758204	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv482681	chr17:16609078-16767235	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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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