Variant report

Variant	rs2694253
Chromosome Location	chr17:20280175-20280176
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr17:20279980-20280215	K562	blood:	n/a	n/a
2	POLR2A	chr17:20279942-20280369	GM12878	blood:	n/a	n/a
3	TCF12	chr17:20280022-20280236	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:20279977-20280212	GM12891	blood:	n/a	n/a
5	POLR2A	chr17:20280003-20280244	HepG2	liver:	n/a	n/a
6	HEY1	chr17:20279966-20280288	K562	blood:	n/a	n/a
7	TCF12	chr17:20280020-20280280	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:20279962-20280334	GM12892	blood:	n/a	n/a
9	POLR2A	chr17:20279981-20280230	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr17:20280010-20280235	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:20279999-20280244	GM12878	blood:	n/a	n/a
12	TAF1	chr17:20279979-20280284	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:20280009-20280247	A549	lung:	n/a	n/a
14	SIN3AK20	chr17:20280048-20280185	HepG2	liver:	n/a	n/a
15	HEY1	chr17:20279989-20280235	HepG2	liver:	n/a	n/a
16	POLR2A	chr17:20279984-20280247	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:20279961-20280280	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr17:20280016-20280213	GM12878	blood:	n/a	n/a
19	PAX5	chr17:20280023-20280201	GM12878	blood:	n/a	n/a
20	POLR2A	chr17:20280021-20280228	A549	lung:	n/a	n/a
21	POLR2A	chr17:20279942-20280249	A549	lung:	n/a	n/a
22	POLR2A	chr17:20279995-20280234	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr17:20279885-20280209	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr17:20279965-20280211	HepG2	liver:	n/a	n/a
25	POLR2A	chr17:20279951-20280206	GM12892	blood:	n/a	n/a
26	PAX5	chr17:20279937-20280281	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:20279800-20280299	GM12892	blood:	n/a	n/a
28	POLR2A	chr17:20279970-20280255	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr17:20279984-20280204	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr17:20280021-20280240	A549	lung:	n/a	n/a
31	POLR2A	chr17:20279923-20280212	GM12891	blood:	n/a	n/a
32	POLR2A	chr17:20279954-20280286	GM12891	blood:	n/a	n/a
33	POLR2A	chr17:20279849-20280263	H1-hESC	embryonic stem cell:	n/a	n/a
34	TCF3	chr17:20280005-20280213	GM12878	blood:	n/a	n/a
35	TAF1	chr17:20279981-20280192	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr17:20279966-20280264	GM12891	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20280153-20280203	SK-N-SH	brain:	n/a
2	chr17:20280166-20280216	K562	blood:	n/a
3	chr17:20280166-20280216	HNPCEpiC	eye:	n/a
4	chr17:20280166-20280216	HMEC	breast:	n/a
5	chr17:20280166-20280216	PrEC	prostate:	n/a
6	chr17:20280166-20280216	GM12878	blood:	n/a
7	chr17:20280166-20280216	BE2_C	brain:	n/a
8	chr17:20280153-20280203	HEEpiC	esophagus:	n/a
9	chr17:20280153-20280203	GM12878	blood:	n/a
10	chr17:20280166-20280216	HAEpiC	amniotic membrane:	n/a
11	chr17:20280166-20280216	SKMC	muscle:	n/a
12	chr17:20280153-20280203	A549	lung:	n/a
13	chr17:20280166-20280216	GM12891	blood:	n/a
14	chr17:20280153-20280203	Jurkat	blood:	n/a
15	chr17:20280153-20280203	AoSMC	blood vessel:	n/a
16	chr17:20280166-20280216	HL-60	blood:	n/a
17	chr17:20280166-20280216	NB4	blood:	n/a
18	chr17:20280153-20280203	K562	blood:	n/a
19	chr17:20280153-20280203	HPAEpiC	pulmonary alveolar:	n/a
20	chr17:20280166-20280216	HRCEpiC	kidney:	n/a
21	chr17:20280166-20280216	T-47D	breast:	n/a
22	chr17:20280153-20280203	HCM	heart:	n/a
23	chr17:20280166-20280216	NT2-D1	testis:	n/a
24	chr17:20280153-20280203	AG04450	lung:	fetal
25	chr17:20280153-20280203	NH-A	brain:	n/a
26	chr17:20280153-20280203	HUVEC	blood vessel:	n/a
27	chr17:20280153-20280203	SK-N-SH_RA	brain:	n/a
28	chr17:20280166-20280216	AG09319	gingival:	n/a
29	chr17:20280166-20280216	H1-hESC	embryonic stem cell:	embryo
30	chr17:20280153-20280203	NHDF-neo	bronchial:	n/a
31	chr17:20280153-20280203	BE2_C	brain:	n/a
32	chr17:20280153-20280203	HEK293	kidney:	embryo
33	chr17:20280153-20280203	AG04449	skin:	fetal
34	chr17:20280166-20280216	AG04450	lung:	fetal
35	chr17:20280166-20280216	SAEC	small airway:	n/a
36	chr17:20280153-20280203	IMR90	lung:	fetal
37	chr17:20280153-20280203	HL-60	blood:	n/a
38	chr17:20280166-20280216	AG09309	skin:	n/a
39	chr17:20280153-20280203	H1-hESC	embryonic stem cell:	embryo
40	chr17:20280153-20280203	PrEC	prostate:	n/a
41	chr17:20280166-20280216	HCM	heart:	n/a
42	chr17:20280153-20280203	RPTEC	kidney:	n/a
43	chr17:20280153-20280203	HRPEpiC	eye:	n/a
44	chr17:20280166-20280216	CMK	blood:	n/a
45	chr17:20280166-20280216	Hepatocyte	liver:	n/a
46	chr17:20280153-20280203	ECC-1	luminal epithelium:	n/a
47	chr17:20280153-20280203	ProgFib	skin:	n/a
48	chr17:20280166-20280216	HRE	kidney:	n/a
49	chr17:20280166-20280216	NHDF-neo	bronchial:	n/a
50	chr17:20280166-20280216	GM12892	blood:	n/a

No data

Variant related genes	Relation type
UPF3AP2	TF binding region
UPF3AP2	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
2	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	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
4	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	esv32786	chr17:20219434-20294008	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv471495	chr17:20221409-20464225	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	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
13	nsv1066679	chr17:20225751-20433857	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	18 gene(s)	inside rSNPs	diseases
14	esv1795432	chr17:20236692-20334628	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv469852	chr17:20245027-20433273	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv833397	chr17:20245028-20433273	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	15 gene(s)	inside rSNPs	diseases
17	esv1850409	chr17:20261591-20295066	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv962286	chr17:20279044-20291514	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
19	nsv962287	chr17:20279044-20295827	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20280000-20280200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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