Variant report

Variant	rs557060227
Chromosome Location	chr1:95581145-95581146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr1:95581041-95581722	K562	blood:	n/a	n/a
2	RCOR1	chr1:95581116-95581558	K562	blood:	n/a	n/a
3	POLR2A	chr1:95581066-95581552	K562	blood:	n/a	n/a
4	GATA2	chr1:95581057-95581680	K562	blood:	n/a	chr1:95581629-95581640
5	NR2F2	chr1:95581088-95581610	K562	blood:	n/a	n/a
6	CEBPB	chr1:95581021-95581886	K562	blood:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
7	PML	chr1:95581022-95581660	K562	blood:	n/a	n/a
8	TEAD4	chr1:95581008-95581771	K562	blood:	n/a	n/a
9	STAT5A	chr1:95581093-95581629	K562	blood:	n/a	n/a
10	TBP	chr1:95581125-95581686	K562	blood:	n/a	n/a
11	EP300	chr1:95581104-95581563	K562	blood:	n/a	chr1:95581479-95581493
12	EP300	chr1:95581058-95581655	K562	blood:	n/a	chr1:95581479-95581493
13	CBX3	chr1:95581133-95581732	K562	blood:	n/a	n/a
14	CEBPB	chr1:95581058-95581867	K562	blood:	n/a	chr1:95581482-95581493 chr1:95581481-95581494
15	CEBPD	chr1:95581091-95581812	K562	blood:	n/a	chr1:95581481-95581492
16	STAT5A	chr1:95581034-95581754	K562	blood:	n/a	n/a
17	RCOR1	chr1:95581111-95581797	K562	blood:	n/a	n/a
18	CEBPD	chr1:95580991-95581750	K562	blood:	n/a	chr1:95581481-95581492
19	GABPA	chr1:95581101-95581611	K562	blood:	n/a	n/a
20	E2F4	chr1:95581135-95583029	MCF10A-Er-Src	breast:	n/a	chr1:95582289-95582298 chr1:95582642-95582651
21	IRF1	chr1:95581083-95581762	K562	blood:	n/a	n/a
22	CUX1	chr1:95581017-95581627	K562	blood:	n/a	n/a
23	POLR2A	chr1:95581119-95581585	K562	blood:	n/a	n/a
24	CCNT2	chr1:95581094-95581627	K562	blood:	n/a	n/a
25	ZNF274	chr1:95581089-95581964	K562	blood:	n/a	n/a
26	ARID3A	chr1:95581076-95581651	K562	blood:	n/a	n/a
27	TRIM28	chr1:95581053-95581661	K562	blood:	n/a	n/a
28	IRF1	chr1:95581062-95581727	K562	blood:	n/a	n/a
29	TBL1XR1	chr1:95581096-95581709	K562	blood:	n/a	n/a
30	POLR2A	chr1:95581058-95585752	PBDE	blood:	n/a	n/a
31	TAL1	chr1:95581053-95581688	K562	blood:	n/a	chr1:95581443-95581458 chr1:95581443-95581458
32	TEAD4	chr1:95581023-95581759	K562	blood:	n/a	n/a
33	HMGN3	chr1:95581037-95581542	K562	blood:	n/a	n/a
34	GATA1	chr1:95580973-95585387	PBDE	blood:	n/a	chr1:95581629-95581640 chr1:95583211-95583219 chr1:95582032-95582048 chr1:95584335-95584344 chr1:95584460-95584467
35	GATA1	chr1:95580859-95581871	K562	blood:	n/a	chr1:95581629-95581640
36	ARID3A	chr1:95581075-95581712	HepG2	liver:	n/a	n/a
37	PML	chr1:95581110-95581642	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
2	chr1:95577752..95581790-chr1:95581855..95584357,3	MCF-7	breast:
3	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:
4	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
5	chr1:95537896..95540428-chr1:95580653..95582591,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231992	TF binding region
TMEM56-RWDD3	TF binding region
TMEM56	TF binding region
ENSG00000206679	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000152078	Chromatin interaction
ENSG00000271092	Chromatin interaction
ENSG00000172339	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95580800-95581600	Enhancers	Liver	Liver
2	chr1:95580800-95581600	Enhancers	HepG2	liver
3	chr1:95581000-95582200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:95581000-95582400	Flanking Active TSS	K562	blood

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