Variant report

Variant	rs191954065
Chromosome Location	chr2:209235814-209235815
allele	A/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	STAT3	chr2:209235743-209235908	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr2:209235737-209235905	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr2:209235741-209235905	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA1	chr2:209235598-209236383	K562	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
7	FOXA2	chr2:209234366-209236242	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:209235768-209236174	K562	blood:	n/a	n/a
9	PML	chr2:209235720-209236134	K562	blood:	n/a	n/a
10	STAT5A	chr2:209235762-209236215	K562	blood:	n/a	n/a
11	STAT3	chr2:209235757-209235882	MCF10A-Er-Src	breast:	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	TEAD4	chr2:209235687-209236210	K562	blood:	n/a	n/a
15	CEBPB	chr2:209235790-209236138	K562	blood:	n/a	n/a
16	TRIM28	chr2:209235792-209236237	K562	blood:	n/a	n/a
17	GATA2	chr2:209235805-209236102	K562	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
18	NR2F2	chr2:209235782-209236251	K562	blood:	n/a	n/a
19	ATF1	chr2:209235807-209236248	K562	blood:	n/a	n/a
20	MAFF	chr2:209235809-209236144	K562	blood:	n/a	n/a
21	CUX1	chr2:209235757-209236186	K562	blood:	n/a	n/a
22	TEAD4	chr2:209235734-209236295	K562	blood:	n/a	n/a
23	RCOR1	chr2:209235701-209236602	K562	blood:	n/a	n/a
24	TBL1XR1	chr2:209235789-209236170	K562	blood:	n/a	n/a
25	GATA1	chr2:209235464-209236411	PBDE	blood:	n/a	chr2:209235991-209236003 chr2:209235993-209236000 chr2:209235993-209236002
26	CCNT2	chr2:209235684-209236200	K562	blood:	n/a	n/a
27	CEBPD	chr2:209235741-209236189	K562	blood:	n/a	n/a
28	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
29	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:14 , 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	chr2:209234000-209236000	Weak transcription	Pancreas	Pancrea
5	chr2:209234000-209236200	Enhancers	Osteobl	bone
6	chr2:209234000-209236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:209234200-209236200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:209235200-209236400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:209235200-209236600	Enhancers	K562	blood
10	chr2:209235400-209236200	Flanking Active TSS	Liver	Liver
11	chr2:209235800-209236000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:209235800-209236000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:209235800-209236000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:209235800-209236000	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links