Variant report

Variant	rs72710275
Chromosome Location	chr4:175849443-175849444
allele	G/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	RUNX3	chr4:175849302-175849682	GM12878	blood:	n/a	n/a
2	PAX5	chr4:175849282-175849699	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr4:175849314-175849708	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:175849186-175849746	GM12878	blood:	n/a	n/a
5	EBF1	chr4:175849347-175850845	GM12878	blood:	n/a	chr4:175849594-175849605
6	PAX5	chr4:175849276-175849730	GM12878	blood:	n/a	n/a
7	EP300	chr4:175849127-175850899	GM12878	blood:	n/a	chr4:175849722-175849736
8	SP1	chr4:175849227-175849808	GM12878	blood:	n/a	n/a
9	TCF3	chr4:175849351-175849655	GM12878	blood:	n/a	n/a
10	EP300	chr4:175849316-175849717	GM12878	blood:	n/a	n/a
11	STAT1	chr4:175849283-175849571	GM12878	blood:	n/a	n/a
12	TCF12	chr4:175849233-175849765	GM12878	blood:	n/a	n/a
13	MXI1	chr4:175849337-175850843	GM12878	blood:	n/a	n/a
14	RELA	chr4:175849332-175850860	GM12878	blood:	n/a	n/a
15	EP300	chr4:175849311-175849634	GM12878	blood:	n/a	n/a
16	EBF1	chr4:175849387-175849737	GM12878	blood:	n/a	chr4:175849594-175849605
17	SP1	chr4:175849212-175849736	GM12878	blood:	n/a	n/a
18	ETS1	chr4:175849293-175849602	GM12878	blood:	n/a	n/a
19	IKZF1	chr4:175849268-175849802	GM12878	blood:	n/a	n/a
20	EP300	chr4:175849232-175850368	GM12878	blood:	n/a	chr4:175849722-175849736
21	TCF3	chr4:175849331-175849642	GM12878	blood:	n/a	n/a
22	MAZ	chr4:175849199-175850180	GM12878	blood:	n/a	chr4:175849709-175849720
23	BHLHE40	chr4:175849226-175850369	GM12878	blood:	n/a	n/a
24	BCL11A	chr4:175849333-175849694	GM12878	blood:	n/a	n/a
25	ETS1	chr4:175849315-175849642	GM12878	blood:	n/a	n/a
26	CUX1	chr4:175849424-175849678	GM12878	blood:	n/a	n/a
27	MAX	chr4:175849291-175850056	GM12878	blood:	n/a	chr4:175849709-175849720
28	POLR2A	chr4:175848961-175851056	GM12878	blood:	n/a	n/a
29	TBP	chr4:175849333-175850860	GM12878	blood:	n/a	n/a
30	PAX5	chr4:175849319-175849670	GM12878	blood:	n/a	n/a
31	PAX5	chr4:175849237-175849845	GM12878	blood:	n/a	n/a
32	POU2F2	chr4:175849199-175849755	GM12878	blood:	n/a	n/a
33	EBF1	chr4:175849354-175849600	GM12878	blood:	n/a	n/a
34	WRNIP1	chr4:175849049-175850217	GM12878	blood:	n/a	n/a
35	POU2F2	chr4:175849280-175849701	GM12891	blood:	n/a	n/a
36	PAX5	chr4:175849347-175849691	GM12891	blood:	n/a	n/a
37	CHD2	chr4:175849189-175850449	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:175848807-175851081	GM12891	blood:	n/a	n/a
39	SMC3	chr4:175849399-175849716	GM12878	blood:	n/a	n/a
40	POU2F2	chr4:175849300-175849737	GM12891	blood:	n/a	n/a
41	POLR2A	chr4:175848791-175850848	Raji	blood:	n/a	n/a
42	RCOR1	chr4:175849377-175850593	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:175849106-175849752	GM12892	blood:	n/a	n/a
44	POLR2A	chr4:175849270-175849537	GM12891	blood:	n/a	n/a
45	PBX3	chr4:175849406-175849642	GM12878	blood:	n/a	n/a
46	POU2F2	chr4:175849370-175849686	GM12878	blood:	n/a	n/a
47	ZNF384	chr4:175849171-175850365	GM12878	blood:	n/a	n/a
48	RUNX3	chr4:175849218-175849748	GM12878	blood:	n/a	n/a
49	IRF4	chr4:175849279-175849706	GM12878	blood:	n/a	n/a
50	TCF12	chr4:175849321-175849483	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000265493	TF binding region
ENSG00000250200	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10000099	0.92[ASN][1000 genomes]
rs10011688	0.84[ASN][1000 genomes]
rs10014645	0.92[ASN][1000 genomes]
rs10014996	0.92[ASN][1000 genomes]
rs13104813	0.92[ASN][1000 genomes]
rs13106865	0.92[ASN][1000 genomes]
rs35865475	0.92[ASN][1000 genomes]
rs62332288	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62334415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62334416	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6811855	0.92[ASN][1000 genomes]
rs6812024	0.92[ASN][1000 genomes]
rs7689299	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018390	chr4:175475505-175969742	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1034301	chr4:175656538-176055348	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv537364	chr4:175656538-176055348	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1030235	chr4:175663839-175969742	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv537365	chr4:175663839-175969742	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830156	chr4:175725040-175916435	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175849200-175850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:175849200-175854000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:175849400-175849800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:175849400-175849800	Enhancers	GM12878-XiMat	blood
5	chr4:175849400-175850600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links