Variant report

Variant	rs145509874
Chromosome Location	chr20:29896511-29896512
allele	A/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	chr20:29896479-29896529	SAEC	small airway:	n/a
2	chr20:29896479-29896529	NT2-D1	testis:	n/a
3	chr20:29896479-29896529	ECC-1	luminal epithelium:	n/a
4	chr20:29896479-29896529	NB4	blood:	n/a
5	chr20:29896479-29896529	HEK293	kidney:	embryo
6	chr20:29896479-29896529	PrEC	prostate:	n/a
7	chr20:29896479-29896529	NHDF-neo	bronchial:	n/a
8	chr20:29896479-29896529	HRPEpiC	eye:	n/a
9	chr20:29896479-29896529	HCT-116	colon:	n/a
10	chr20:29896479-29896529	HMEC	breast:	n/a
11	chr20:29896479-29896529	GM12892	blood:	n/a
12	chr20:29896479-29896529	SK-N-MC	brain:	n/a
13	chr20:29896479-29896529	LNCaP	prostate:	n/a
14	chr20:29896479-29896529	ProgFib	skin:	n/a
15	chr20:29896479-29896529	AG04450	lung:	fetal
16	chr20:29896479-29896529	HCM	heart:	n/a
17	chr20:29896479-29896529	HL-60	blood:	n/a
18	chr20:29896479-29896529	Hela-S3	cervix:	n/a
19	chr20:29896479-29896529	SK-N-SH	brain:	n/a
20	chr20:29896479-29896529	CMK	blood:	n/a
21	chr20:29896479-29896529	Jurkat	blood:	n/a
22	chr20:29896479-29896529	AG10803	skin:	n/a
23	chr20:29896479-29896529	HEEpiC	esophagus:	n/a
24	chr20:29896479-29896529	HIPEpiC	eye:	n/a
25	chr20:29896479-29896529	RPTEC	kidney:	n/a
26	chr20:29896479-29896529	IMR90	lung:	fetal
27	chr20:29896479-29896529	BJ	skin:	n/a
28	chr20:29896479-29896529	HCF	heart:	n/a
29	chr20:29896479-29896529	GM12891	blood:	n/a
30	chr20:29896479-29896529	HPAEpiC	pulmonary alveolar:	n/a
31	chr20:29896479-29896529	PANC-1	pancreas:	n/a
32	chr20:29896479-29896529	HRE	kidney:	n/a
33	chr20:29896479-29896529	MCF10A-Er-Src	breast:	n/a
34	chr20:29896479-29896529	Hepatocyte	liver:	n/a
35	chr20:29896479-29896529	U87	brain:	n/a
36	chr20:29896479-29896529	HAEpiC	amniotic membrane:	n/a
37	chr20:29896479-29896529	Caco-2	colon:	n/a
38	chr20:29896479-29896529	HepG2	liver:	n/a
39	chr20:29896479-29896529	AG04449	skin:	fetal
40	chr20:29896479-29896529	BE2_C	brain:	n/a
41	chr20:29896479-29896529	NH-A	brain:	n/a
42	chr20:29896479-29896529	GM19239	blood:	n/a
43	chr20:29896479-29896529	K562	blood:	n/a
44	chr20:29896479-29896529	AG09319	gingival:	n/a
45	chr20:29896479-29896529	HNPCEpiC	eye:	n/a
46	chr20:29896479-29896529	SK-N-SH_RA	brain:	n/a
47	chr20:29896479-29896529	HRCEpiC	kidney:	n/a
48	chr20:29896479-29896529	AG09309	skin:	n/a
49	chr20:29896479-29896529	ovcar-3	ovarian:	n/a
50	chr20:29896479-29896529	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
DEFB116	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869384	chr20:29833386-30605088	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
2	nsv458960	chr20:29833609-29912852	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv585909	chr20:29833609-29912852	Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470546	chr20:29833609-30235302	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
5	nsv1065124	chr20:29833958-29912341	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv544227	chr20:29833958-29912341	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1061669	chr20:29833958-29926862	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1066609	chr20:29833958-29938132	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv544228	chr20:29833958-29938132	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1066779	chr20:29833958-29981427	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv544229	chr20:29833958-29981427	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1060567	chr20:29833958-29992219	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv544230	chr20:29833958-29992219	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1059642	chr20:29833958-30024839	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv544231	chr20:29833958-30024839	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1055527	chr20:29833958-30078925	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv1062069	chr20:29833958-30153486	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1062612	chr20:29833958-30219337	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
19	nsv1061673	chr20:29833958-30649496	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
20	nsv544232	chr20:29833958-30649496	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
21	nsv1063413	chr20:29835037-29969913	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv1065102	chr20:29835037-30011213	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1058516	chr20:29835037-30024168	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1058344	chr20:29835037-30386611	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	402 gene(s)	inside rSNPs	diseases
25	nsv1059672	chr20:29835037-30621271	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
26	esv2763228	chr20:29835049-30239522	Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
27	nsv949085	chr20:29846303-30473188	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	414 gene(s)	inside rSNPs	diseases
28	nsv1060247	chr20:29860167-29969913	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv1065659	chr20:29877877-30020310	ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	nsv544234	chr20:29877877-30020310	Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	nsv1058639	chr20:29877877-30101083	Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
32	nsv544235	chr20:29877877-30101083	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
33	nsv1058020	chr20:29877877-30197681	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
34	nsv544236	chr20:29877877-30197681	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
35	nsv1063560	chr20:29877877-30435888	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
36	nsv544237	chr20:29877877-30435888	Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
37	nsv1066621	chr20:29877992-30052439	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
38	nsv482272	chr20:29884928-30043331	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
39	nsv585910	chr20:29893501-30045393	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
40	nsv458961	chr20:29893501-30275906	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
41	nsv585911	chr20:29893501-30275906	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 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
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