Variant report

Variant	rs17276438
Chromosome Location	chr2:231440418-231440419
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	USF1	chr2:231440220-231440891	HCT-116	colon:	n/a	n/a
3	MAX	chr2:231440403-231440668	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
4	USF1	chr2:231440362-231440671	SK-N-SH_RA	brain:	n/a	n/a
5	USF1	chr2:231440326-231440667	K562	blood:	n/a	n/a
6	USF1	chr2:231440409-231440699	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr2:231440397-231440711	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
8	MAX	chr2:231440341-231440741	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
9	FOSL1	chr2:231440361-231440717	K562	blood:	n/a	chr2:231440575-231440584
10	POLR2A	chr2:231440319-231440664	GM12878	blood:	n/a	n/a
11	USF1	chr2:231440347-231440633	SK-N-SH_RA	brain:	n/a	n/a
12	IRF1	chr2:231440416-231440701	K562	blood:	n/a	n/a
13	USF2	chr2:231440394-231440713	K562	blood:	n/a	n/a
14	ATF3	chr2:231440402-231440663	K562	blood:	n/a	n/a
15	USF1	chr2:231440153-231440937	HCT-116	colon:	n/a	n/a
16	MAX	chr2:231440365-231440689	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
17	POLR2A	chr2:231440245-231440445	GM12878	blood:	n/a	n/a
18	USF1	chr2:231440322-231440671	SK-N-SH	brain:	n/a	n/a
19	ZNF143	chr2:231440349-231440702	K562	blood:	n/a	chr2:231440499-231440518
20	JUND	chr2:231440398-231440760	K562	blood:	n/a	chr2:231440575-231440584 chr2:231440574-231440585
21	MYC	chr2:231440391-231440718	K562	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
22	MYC	chr2:231440358-231440711	NB4	blood:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
23	MAX	chr2:231440402-231440678	SK-N-SH	brain:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
24	USF1	chr2:231440263-231440731	K562	blood:	n/a	n/a
25	MAX	chr2:231440263-231440849	HCT-116	colon:	n/a	chr2:231440531-231440542 chr2:231440531-231440542 chr2:231440532-231440541 chr2:231440531-231440542
26	JUN	chr2:231440230-231440857	K562	blood:	n/a	chr2:231440575-231440584
27	CBX3	chr2:231440344-231440726	K562	blood:	n/a	n/a

Variant related genes	Relation type
TPM3P8	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10193165	1.00[CHB][hapmap]
rs12468515	1.00[CHB][hapmap]
rs13021124	1.00[CHB][hapmap]
rs13021655	1.00[CHB][hapmap]
rs16827417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354508	0.81[EUR][1000 genomes]
rs56047456	0.96[EUR][1000 genomes]
rs62192828	0.92[EUR][1000 genomes]
rs62192830	0.96[EUR][1000 genomes]
rs6748334	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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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