Variant report

Variant	rs548849571
Chromosome Location	chr2:212640869-212640870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr2:212640742-212640974	HepG2	liver:	n/a	n/a
2	POU2F2	chr2:212640675-212640939	GM12878	blood:	n/a	n/a
3	GABPA	chr2:212640755-212640915	Hela-S3	cervix:	n/a	n/a
4	BATF	chr2:212640759-212640912	GM12878	blood:	n/a	n/a
5	JUND	chr2:212640783-212640888	HepG2	liver:	n/a	n/a
6	EP300	chr2:212640753-212640904	GM12878	blood:	n/a	n/a
7	GABPA	chr2:212640754-212640886	Hela-S3	cervix:	n/a	n/a
8	PAX5	chr2:212640713-212640958	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:212640753-212640918	Hela-S3	cervix:	n/a	n/a
10	RXRA	chr2:212640547-212640948	GM12878	blood:	n/a	n/a
11	ZBTB33	chr2:212640739-212640933	K562	blood:	n/a	n/a
12	BHLHE40	chr2:212640609-212641064	HepG2	liver:	n/a	n/a
13	SP1	chr2:212640737-212640982	GM12878	blood:	n/a	n/a
14	EBF1	chr2:212640763-212640907	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr2:212640783-212640882	HepG2	liver:	n/a	n/a
16	PBX3	chr2:212640779-212640890	GM12878	blood:	n/a	n/a
17	TCF12	chr2:212640761-212640910	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:212640762-212640953	GM12878	blood:	n/a	n/a
19	TAF1	chr2:212640771-212640900	Hela-S3	cervix:	n/a	n/a
20	SP1	chr2:212640750-212640873	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr2:212640760-212640920	HepG2	liver:	n/a	n/a
22	BCL11A	chr2:212640745-212640924	GM12878	blood:	n/a	n/a
23	GATA2	chr2:212640749-212640960	K562	blood:	n/a	n/a
24	PAX5	chr2:212640773-212640899	GM12878	blood:	n/a	n/a
25	SPI1	chr2:212640743-212640910	GM12878	blood:	n/a	n/a
26	EP300	chr2:212640701-212640928	GM12878	blood:	n/a	n/a
27	FOSL2	chr2:212640721-212640950	HepG2	liver:	n/a	n/a
28	ZBTB33	chr2:212640751-212640918	K562	blood:	n/a	n/a
29	PAX5	chr2:212640753-212640904	GM12878	blood:	n/a	n/a
30	HEY1	chr2:212640707-212640892	HepG2	liver:	n/a	n/a
31	BATF	chr2:212640753-212640935	GM12878	blood:	n/a	n/a
32	PAX5	chr2:212640726-212640924	GM12878	blood:	n/a	n/a
33	HEY1	chr2:212640740-212640928	HepG2	liver:	n/a	n/a
34	ZBTB33	chr2:212640729-212640930	HepG2	liver:	n/a	n/a
35	PBX3	chr2:212640783-212640886	GM12878	blood:	n/a	n/a
36	ZBTB33	chr2:212640739-212640886	HepG2	liver:	n/a	n/a
37	FOSL2	chr2:212640686-212640926	HepG2	liver:	n/a	n/a
38	SIX5	chr2:212640720-212640918	K562	blood:	n/a	n/a
39	USF1	chr2:212640783-212640888	HepG2	liver:	n/a	n/a
40	USF1	chr2:212640783-212640919	HepG2	liver:	n/a	n/a
41	JUND	chr2:212640744-212640915	HepG2	liver:	n/a	n/a
42	SP1	chr2:212640712-212640930	GM12878	blood:	n/a	n/a
43	SIX5	chr2:212640738-212640934	GM12878	blood:	n/a	n/a
44	POU2F2	chr2:212640754-212640908	GM12878	blood:	n/a	n/a
45	HEY1	chr2:212640715-212640922	K562	blood:	n/a	n/a
46	SPI1	chr2:212640771-212640919	K562	blood:	n/a	n/a
47	TAF1	chr2:212640669-212640912	Hela-S3	cervix:	n/a	n/a
48	TCF12	chr2:212640755-212640914	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000236007	TF binding region
MTND2P23	TF binding region

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	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv963773	chr2:212638550-212645592	Enhancers Weak transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
3	nsv875784	chr2:212639948-212761152	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 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
chromosomal regions: chr1:12345-34567

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