Variant report

Variant	rs543200448
Chromosome Location	chr2:58478759-58478760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:58478569-58479002	Hela-S3	cervix:	n/a	n/a
2	GABPA	chr2:58478490-58478928	Hela-S3	cervix:	n/a	n/a
3	GABPA	chr2:58478573-58478901	HepG2	liver:	n/a	n/a
4	TAF1	chr2:58478520-58478905	HepG2	liver:	n/a	n/a
5	ZBTB33	chr2:58478526-58479270	K562	blood:	n/a	n/a
6	TAF1	chr2:58478595-58478936	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr2:58478571-58478992	K562	blood:	n/a	n/a
8	YY1	chr2:58478594-58478924	A549	lung:	n/a	n/a
9	POLR2A	chr2:58478486-58478887	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:58478699-58478949	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:58478552-58478929	GM12892	blood:	n/a	n/a
12	MYC	chr2:58478687-58478935	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:58478476-58478891	Gliobla	brain:	n/a	n/a
14	MYC	chr2:58478759-58478863	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:58478596-58478883	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:58478650-58479179	A549	lung:	n/a	n/a
17	POLR2A	chr2:58478549-58478921	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:58478522-58478800	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr2:58478581-58478828	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:58478564-58478852	A549	lung:	n/a	n/a
21	POLR2A	chr2:58478598-58478984	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr2:58478585-58478868	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:58478493-58478791	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr2:58478479-58478920	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr2:58478506-58479271	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr2:58478596-58478780	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:58478744-58478794	HRCEpiC	kidney:	n/a
2	chr2:58478735-58478785	HIPEpiC	eye:	n/a
3	chr2:58478735-58478785	T-47D	breast:	n/a
4	chr2:58478735-58478785	HRCEpiC	kidney:	n/a
5	chr2:58478744-58478794	LNCaP	prostate:	n/a
6	chr2:58478744-58478794	Jurkat	blood:	n/a
7	chr2:58478735-58478785	NT2-D1	testis:	n/a
8	chr2:58478744-58478794	GM06990	blood:	n/a
9	chr2:58478735-58478785	AG10803	skin:	n/a
10	chr2:58478744-58478794	PFSK-1	brain:	n/a
11	chr2:58478735-58478785	HUVEC	blood vessel:	n/a
12	chr2:58478744-58478794	A549	lung:	n/a
13	chr2:58478744-58478794	AG04450	lung:	fetal
14	chr2:58478735-58478785	NHDF-neo	bronchial:	n/a
15	chr2:58478735-58478785	SK-N-MC	brain:	n/a
16	chr2:58478735-58478785	NB4	blood:	n/a
17	chr2:58478735-58478785	U87	brain:	n/a
18	chr2:58478744-58478794	CMK	blood:	n/a
19	chr2:58478744-58478794	Hela-S3	cervix:	n/a
20	chr2:58478735-58478785	GM12892	blood:	n/a
21	chr2:58478744-58478794	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:58478735-58478785	PrEC	prostate:	n/a
23	chr2:58478744-58478794	SK-N-SH	brain:	n/a
24	chr2:58478735-58478785	PANC-1	pancreas:	n/a
25	chr2:58478744-58478794	HL-60	blood:	n/a
26	chr2:58478735-58478785	CMK	blood:	n/a
27	chr2:58478735-58478785	HEEpiC	esophagus:	n/a
28	chr2:58478735-58478785	GM19239	blood:	n/a
29	chr2:58478744-58478794	SKMC	muscle:	n/a
30	chr2:58478744-58478794	AG09319	gingival:	n/a
31	chr2:58478744-58478794	HCPEpiC	choroid plexus:	n/a
32	chr2:58478735-58478785	SK-N-SH_RA	brain:	n/a
33	chr2:58478735-58478785	LNCaP	prostate:	n/a
34	chr2:58478735-58478785	AoSMC	blood vessel:	n/a
35	chr2:58478744-58478794	NHDF-neo	bronchial:	n/a
36	chr2:58478735-58478785	HCF	heart:	n/a
37	chr2:58478744-58478794	BJ	skin:	n/a
38	chr2:58478735-58478785	IMR90	lung:	fetal
39	chr2:58478744-58478794	HIPEpiC	eye:	n/a
40	chr2:58478735-58478785	Jurkat	blood:	n/a
41	chr2:58478735-58478785	Hela-S3	cervix:	n/a
42	chr2:58478735-58478785	NHBE	bronchial:	n/a
43	chr2:58478735-58478785	AG09319	gingival:	n/a
44	chr2:58478735-58478785	BJ	skin:	n/a
45	chr2:58478744-58478794	HMEC	breast:	n/a
46	chr2:58478744-58478794	AG09309	skin:	n/a
47	chr2:58478744-58478794	AG04449	skin:	fetal
48	chr2:58478735-58478785	HCPEpiC	choroid plexus:	n/a
49	chr2:58478735-58478785	HepG2	liver:	n/a
50	chr2:58478735-58478785	HCM	heart:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-4	chr2:58478585-58479810	NONHSAT070851

No data

Variant related genes	Relation type
EIF3FP3	TF binding region
EIF3FP3	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv979006	chr2:58477513-58480966	Inactive region	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

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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