Variant report

Variant	rs571426602
Chromosome Location	chr2:209236028-209236029
allele	C/G
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	TAL1	chr2:209235746-209236301	K562	blood:	n/a	chr2:209236070-209236085 chr2:209236070-209236085 chr2:209236070-209236085
2	EP300	chr2:209235789-209236228	K562	blood:	n/a	n/a
3	POLR2A	chr2:209235985-209236075	K562	blood:	n/a	n/a
4	UBTF	chr2:209235907-209236037	K562	blood:	n/a	n/a
5	GATA1	chr2:209235598-209236383	K562	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
6	FOXA2	chr2:209234366-209236242	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:209235768-209236174	K562	blood:	n/a	n/a
8	PML	chr2:209235720-209236134	K562	blood:	n/a	n/a
9	STAT5A	chr2:209235762-209236215	K562	blood:	n/a	n/a
10	ARID3A	chr2:209235877-209236505	K562	blood:	n/a	n/a
11	CREB1	chr2:209235820-209236371	K562	blood:	n/a	n/a
12	GATA2	chr2:209235748-209236237	K562	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
13	POLR2A	chr2:209235809-209236197	K562	blood:	n/a	n/a
14	POLR2A	chr2:209235903-209236129	K562	blood:	n/a	n/a
15	TEAD4	chr2:209235687-209236210	K562	blood:	n/a	n/a
16	CEBPB	chr2:209235790-209236138	K562	blood:	n/a	n/a
17	MYC	chr2:209235849-209236099	K562	blood:	n/a	n/a
18	ZMIZ1	chr2:209235847-209236165	K562	blood:	n/a	n/a
19	TRIM28	chr2:209235792-209236237	K562	blood:	n/a	n/a
20	HMGN3	chr2:209235827-209236198	K562	blood:	n/a	chr2:209235994-209236001
21	MAZ	chr2:209235895-209236113	K562	blood:	n/a	n/a
22	GATA2	chr2:209235805-209236102	K562	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
23	PML	chr2:209235926-209236236	K562	blood:	n/a	n/a
24	NR2F2	chr2:209235782-209236251	K562	blood:	n/a	n/a
25	ATF1	chr2:209235807-209236248	K562	blood:	n/a	n/a
26	MAFF	chr2:209235809-209236144	K562	blood:	n/a	n/a
27	CUX1	chr2:209235757-209236186	K562	blood:	n/a	n/a
28	TEAD4	chr2:209235734-209236295	K562	blood:	n/a	n/a
29	BHLHE40	chr2:209235865-209236444	K562	blood:	n/a	n/a
30	RCOR1	chr2:209235701-209236602	K562	blood:	n/a	n/a
31	TBL1XR1	chr2:209235789-209236170	K562	blood:	n/a	n/a
32	GATA1	chr2:209235464-209236411	PBDE	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
33	CCNT2	chr2:209235684-209236200	K562	blood:	n/a	n/a
34	CEBPD	chr2:209235741-209236189	K562	blood:	n/a	n/a
35	JUND	chr2:209235810-209236563	K562	blood:	n/a	chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236468-209236478 chr2:209236470-209236477 chr2:209236469-209236477 chr2:209236468-209236478 chr2:209236467-209236478 chr2:209236469-209236477
36	GABPA	chr2:209235824-209236152	K562	blood:	n/a	n/a
37	CEBPD	chr2:209235812-209236227	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000265454	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv997721	chr2:209228673-209247209	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1006323	chr2:209228673-209247384	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3418149	chr2:209233519-209247345	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459072	chr2:209233567-209247320	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3459073	chr2:209233591-209247266	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3459074	chr2:209233591-209247266	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv9904	chr2:209233686-209247332	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv438381	chr2:209235373-209239742	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	nsv523966	chr2:209235373-209239742	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv3693454	chr2:209235373-209245352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2421431	chr2:209235373-209247221	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209233000-209240200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:209233400-209236600	Enhancers	HepG2	liver
3	chr2:209233800-209236600	Enhancers	NHDF-Ad	bronchial
4	chr2:209234000-209236200	Enhancers	Osteobl	bone
5	chr2:209234000-209236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:209234200-209236200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:209235200-209236400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:209235200-209236600	Enhancers	K562	blood
9	chr2:209235400-209236200	Flanking Active TSS	Liver	Liver
10	chr2:209236000-209240200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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