Variant report

Variant	rs2288356
Chromosome Location	chr2:231440555-231440556
allele	A/C
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	MAX	chr2:231440356-231440747	NB4	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
2	HCFC1	chr2:231440498-231440638	K562	blood:	n/a	n/a
3	E2F6	chr2:231440466-231440616	K562	blood:	n/a	n/a
4	USF1	chr2:231440220-231440891	HCT-116	colon:	n/a	n/a
5	MAX	chr2:231440403-231440668	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
6	USF1	chr2:231440362-231440671	SK-N-SH_RA	brain:	n/a	n/a
7	USF1	chr2:231440326-231440667	K562	blood:	n/a	n/a
8	USF1	chr2:231440449-231440645	A549	lung:	n/a	n/a
9	USF1	chr2:231440409-231440699	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr2:231440397-231440711	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
11	MAX	chr2:231440341-231440741	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
12	JUND	chr2:231440426-231440597	HepG2	liver:	n/a	chr2:231440575-231440584 chr2:231440574-231440585
13	FOSL1	chr2:231440361-231440717	K562	blood:	n/a	chr2:231440575-231440584
14	POLR2A	chr2:231440319-231440664	GM12878	blood:	n/a	n/a
15	USF1	chr2:231440347-231440633	SK-N-SH_RA	brain:	n/a	n/a
16	IRF1	chr2:231440416-231440701	K562	blood:	n/a	n/a
17	USF2	chr2:231440394-231440713	K562	blood:	n/a	n/a
18	ATF3	chr2:231440402-231440663	K562	blood:	n/a	n/a
19	USF1	chr2:231440153-231440937	HCT-116	colon:	n/a	n/a
20	MAX	chr2:231440365-231440689	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
21	MAZ	chr2:231440495-231440619	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
22	USF1	chr2:231440322-231440671	SK-N-SH	brain:	n/a	n/a
23	USF1	chr2:231440421-231440687	ECC-1	luminal epithelium:	n/a	n/a
24	ZNF143	chr2:231440349-231440702	K562	blood:	n/a	chr2:231440499-231440518
25	RCOR1	chr2:231440426-231440859	K562	blood:	n/a	n/a
26	JUND	chr2:231440398-231440760	K562	blood:	n/a	chr2:231440575-231440584 chr2:231440574-231440585
27	MYC	chr2:231440391-231440718	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
28	MYC	chr2:231440358-231440711	NB4	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
29	MXI1	chr2:231440446-231440657	K562	blood:	n/a	chr2:231440531-231440540
30	EP300	chr2:231440532-231440642	K562	blood:	n/a	n/a
31	POLR2A	chr2:231440500-231440556	K562	blood:	n/a	n/a
32	USF1	chr2:231440423-231440715	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr2:231440402-231440678	SK-N-SH	brain:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
34	USF1	chr2:231440263-231440731	K562	blood:	n/a	n/a
35	MAX	chr2:231440263-231440849	HCT-116	colon:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
36	JUN	chr2:231440230-231440857	K562	blood:	n/a	chr2:231440575-231440584
37	CBX3	chr2:231440344-231440726	K562	blood:	n/a	n/a

Variant related genes	Relation type
TPM3P8	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13408474	0.85[ASN][1000 genomes]
rs13418392	0.84[ASN][1000 genomes]
rs17276229	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs17276271	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs17276306	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2396763	0.81[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap]
rs55711997	0.80[ASN][1000 genomes]
rs56246275	0.81[ASN][1000 genomes]
rs57193071	0.82[ASN][1000 genomes]
rs62192837	0.88[ASN][1000 genomes]
rs6754406	0.83[ASN][1000 genomes]
rs9711902	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875954	chr2:231421531-231441828	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv11055	chr2:231437916-231440779	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2288356	LOC151484	cis	brain	BrainEAC

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231439400-231440800	ZNF genes & repeats	GM12878-XiMat	blood
2	chr2:231439800-231440600	Enhancers	Placenta	Placenta
3	chr2:231439800-231440800	Enhancers	Fetal Thymus	thymus
4	chr2:231439800-231443800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:231440000-231440600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:231440000-231440800	Enhancers	K562	blood
7	chr2:231440000-231441000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:231440000-231441000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:231440000-231442200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:231440000-231442600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:231440200-231440800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr2:231440200-231443400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:231440400-231440600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr2:231440400-231440800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:231440400-231440800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr2:231440400-231440800	Active TSS	A549	lung
17	chr2:231440400-231441200	Enhancers	Primary T helper cells PMA-I stimulated	--

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