Variant report

Variant	rs565262279
Chromosome Location	chr5:17354551-17354552
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:17354371-17354651	A549	lung:	n/a	n/a
2	POLR2A	chr5:17354202-17354770	GM12891	blood:	n/a	n/a
3	HEY1	chr5:17354309-17354764	K562	blood:	n/a	n/a
4	HEY1	chr5:17353758-17354777	K562	blood:	n/a	n/a
5	POLR2A	chr5:17353767-17354792	GM12891	blood:	n/a	n/a
6	POLR2A	chr5:17354515-17354735	MCF-7	breast:	n/a	n/a
7	POLR2A	chr5:17353940-17354750	GM12892	blood:	n/a	n/a
8	HEY1	chr5:17354496-17354799	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:17354051-17354755	A549	lung:	n/a	n/a
10	POLR2A	chr5:17353692-17354737	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:17353811-17354807	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:17354266-17354740	GM12878	blood:	n/a	n/a
13	TCF3	chr5:17354360-17354596	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:17354345-17354731	A549	lung:	n/a	n/a
15	POLR2A	chr5:17354519-17354560	MCF-7	breast:	n/a	n/a
16	POLR2A	chr5:17354533-17354753	Hela-S3	cervix:	n/a	n/a
17	MYC	chr5:17354494-17354599	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:17354463-17354728	HepG2	liver:	n/a	n/a
19	ZBTB33	chr5:17353720-17354694	K562	blood:	n/a	n/a
20	POLR2A	chr5:17353729-17354695	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:17353995-17354900	GM12892	blood:	n/a	n/a
22	POLR2A	chr5:17353761-17354800	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:17354262-17354749	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:17353763-17354905	Hela-S3	cervix:	n/a	n/a
25	TCF12	chr5:17354504-17354763	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17354504-17354554	U87	brain:	n/a
2	chr5:17354521-17354571	HNPCEpiC	eye:	n/a
3	chr5:17354521-17354571	BE2_C	brain:	n/a
4	chr5:17354521-17354571	MCF10A-Er-Src	breast:	n/a
5	chr5:17354521-17354571	MCF-7	breast:	n/a
6	chr5:17354504-17354554	NH-A	brain:	n/a
7	chr5:17354504-17354554	NHBE	bronchial:	n/a
8	chr5:17354504-17354554	ovcar-3	ovarian:	n/a
9	chr5:17354504-17354554	ProgFib	skin:	n/a
10	chr5:17354521-17354571	Caco-2	colon:	n/a
11	chr5:17354504-17354554	AG09319	gingival:	n/a
12	chr5:17354521-17354571	HUVEC	blood vessel:	n/a
13	chr5:17354521-17354571	SK-N-MC	brain:	n/a
14	chr5:17354504-17354554	H1-hESC	embryonic stem cell:	embryo
15	chr5:17354504-17354554	NB4	blood:	n/a
16	chr5:17354504-17354554	GM12878	blood:	n/a
17	chr5:17354504-17354554	GM12891	blood:	n/a
18	chr5:17354521-17354571	SKMC	muscle:	n/a
19	chr5:17354521-17354571	U87	brain:	n/a
20	chr5:17354504-17354554	BJ	skin:	n/a
21	chr5:17354521-17354571	T-47D	breast:	n/a
22	chr5:17354521-17354571	GM19239	blood:	n/a
23	chr5:17354521-17354571	NB4	blood:	n/a
24	chr5:17354504-17354554	HCT-116	colon:	n/a
25	chr5:17354504-17354554	HRCEpiC	kidney:	n/a
26	chr5:17354504-17354554	PFSK-1	brain:	n/a
27	chr5:17354504-17354554	Hela-S3	cervix:	n/a
28	chr5:17354504-17354554	AoSMC	blood vessel:	n/a
29	chr5:17354521-17354571	H1-hESC	embryonic stem cell:	embryo
30	chr5:17354504-17354554	T-47D	breast:	n/a
31	chr5:17354521-17354571	HAEpiC	amniotic membrane:	n/a
32	chr5:17354521-17354571	ProgFib	skin:	n/a
33	chr5:17354521-17354571	HCT-116	colon:	n/a
34	chr5:17354521-17354571	AG10803	skin:	n/a
35	chr5:17354521-17354571	Hepatocyte	liver:	n/a
36	chr5:17354504-17354554	GM12892	blood:	n/a
37	chr5:17354504-17354554	ECC-1	luminal epithelium:	n/a
38	chr5:17354504-17354554	HEK293	kidney:	embryo
39	chr5:17354504-17354554	LNCaP	prostate:	n/a
40	chr5:17354521-17354571	AG09309	skin:	n/a
41	chr5:17354504-17354554	AG04449	skin:	fetal
42	chr5:17354521-17354571	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:17354504-17354554	RPTEC	kidney:	n/a
44	chr5:17354504-17354554	AG10803	skin:	n/a
45	chr5:17354521-17354571	CMK	blood:	n/a
46	chr5:17354521-17354571	HRCEpiC	kidney:	n/a
47	chr5:17354504-17354554	K562	blood:	n/a
48	chr5:17354521-17354571	GM12878	blood:	n/a
49	chr5:17354504-17354554	SK-N-MC	brain:	n/a
50	chr5:17354504-17354554	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:61734609..61735212-chr5:17354143..17355140,3	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-1	chr5:17354243-17355008	ENSG00000248223

No data

Variant related genes	Relation type
FTH1P10	TF binding region
FTH1P10	CpG island
ENSG00000167996	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2763872	chr5:17342482-17358269	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv3432739	chr5:17342737-17357177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	esv19164	chr5:17342748-17357008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	esv1836524	chr5:17347702-17356239	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv441940	chr5:17347702-17356239	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv597317	chr5:17347706-17354665	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv597318	chr5:17347706-17356166	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv597319	chr5:17347706-17356536	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv597320	chr5:17347706-17356614	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv514292	chr5:17348248-17355010	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv597323	chr5:17351275-17356166	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	nsv597324	chr5:17352210-17356614	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
17	nsv597325	chr5:17352326-17356166	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
18	nsv597326	chr5:17352326-17356614	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
19	nsv597327	chr5:17352407-17356166	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
20	nsv597328	chr5:17352407-17356614	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
21	nsv597329	chr5:17352741-17356614	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
22	nsv968879	chr5:17353620-17359144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17344600-17358400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:17352800-17355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:17354400-17354800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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