Variant report

Variant	rs11726315
Chromosome Location	chr4:175341659-175341660
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	MAX	chr4:175341487-175341831	K562	blood:	n/a	n/a
2	CCNT2	chr4:175341408-175341743	K562	blood:	n/a	n/a
3	EP300	chr4:175341307-175342689	K562	blood:	n/a	chr4:175341462-175341476
4	MYC	chr4:175341389-175341896	K562	blood:	n/a	n/a
5	BHLHE40	chr4:175341489-175341764	K562	blood:	n/a	n/a
6	GATA1	chr4:175341300-175342667	PBDE	blood:	n/a	chr4:175341530-175341539 chr4:175341530-175341537 chr4:175342144-175342151
7	RCOR1	chr4:175341362-175342293	K562	blood:	n/a	n/a
8	ZMIZ1	chr4:175341417-175341907	K562	blood:	n/a	n/a
9	CEBPD	chr4:175341319-175341826	K562	blood:	n/a	n/a
10	TBP	chr4:175341476-175341842	K562	blood:	n/a	n/a
11	STAT5A	chr4:175341324-175341871	K562	blood:	n/a	n/a
12	JUND	chr4:175341325-175341851	K562	blood:	n/a	n/a
13	MAX	chr4:175341406-175341889	K562	blood:	n/a	n/a
14	GATA2	chr4:175341344-175341882	K562	blood:	n/a	chr4:175341530-175341539 chr4:175341530-175341537
15	GATA1	chr4:175341420-175341676	PBDEFetal	blood:	n/a	chr4:175341530-175341539 chr4:175341530-175341537
16	ZNF384	chr4:175341381-175341823	K562	blood:	n/a	n/a
17	MAFF	chr4:175341462-175341863	K562	blood:	n/a	n/a
18	TEAD4	chr4:175341297-175342215	K562	blood:	n/a	n/a
19	CEBPB	chr4:175341285-175341800	K562	blood:	n/a	n/a
20	CUX1	chr4:175341453-175341712	K562	blood:	n/a	n/a
21	TRIM28	chr4:175341245-175341871	K562	blood:	n/a	n/a
22	CEBPD	chr4:175341305-175341868	K562	blood:	n/a	n/a
23	ZNF143	chr4:175341518-175341726	K562	blood:	n/a	n/a
24	CBX3	chr4:175341293-175341919	K562	blood:	n/a	n/a
25	HMGN3	chr4:175341412-175341677	K562	blood:	n/a	n/a
26	POLR2A	chr4:175341413-175341744	K562	blood:	n/a	n/a
27	RCOR1	chr4:175341407-175341823	K562	blood:	n/a	n/a
28	MAX	chr4:175341459-175341835	K562	blood:	n/a	n/a
29	IRF1	chr4:175341404-175341916	K562	blood:	n/a	n/a
30	ELF1	chr4:175341404-175341724	K562	blood:	n/a	n/a
31	MAFK	chr4:175341511-175341800	K562	blood:	n/a	chr4:175341615-175341626 chr4:175341613-175341627
32	TEAD4	chr4:175341295-175341864	K562	blood:	n/a	n/a
33	CEBPB	chr4:175341322-175341778	K562	blood:	n/a	n/a
34	STAT5A	chr4:175341468-175341846	K562	blood:	n/a	n/a
35	MYC	chr4:175341322-175341898	K562	blood:	n/a	n/a
36	TBL1XR1	chr4:175341325-175341907	K562	blood:	n/a	n/a
37	TBL1XR1	chr4:175341458-175341831	K562	blood:	n/a	n/a
38	PML	chr4:175341328-175341795	K562	blood:	n/a	n/a
39	CREB1	chr4:175341259-175341971	K562	blood:	n/a	n/a
40	ELF1	chr4:175341360-175341677	K562	blood:	n/a	n/a
41	TAL1	chr4:175341361-175341791	K562	blood:	n/a	n/a
42	BACH1	chr4:175341530-175341735	K562	blood:	n/a	n/a
43	ARID3A	chr4:175341248-175342222	K562	blood:	n/a	n/a
44	MAZ	chr4:175341403-175341759	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175340964..175343698-chr4:175354829..175357368,2	K562	blood:

Variant related genes	Relation type
MIR4276	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11942381	0.82[ASN][1000 genomes]
rs4303956	0.82[ASN][1000 genomes]
rs4306935	0.86[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4499680	0.83[EUR][1000 genomes]
rs4554044	0.82[EUR][1000 genomes]
rs4624634	0.82[CEU][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs67034472	0.83[EUR][1000 genomes]
rs6833543	0.90[ASN][1000 genomes]
rs72704105	0.82[EUR][1000 genomes]
rs7669690	0.82[ASN][1000 genomes]

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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11726315	HPGD	cis	multi-tissue	Pritchard
rs11726315	KIAA1712	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175340200-175344200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:175340400-175342200	Enhancers	Fetal Thymus	thymus
3	chr4:175340600-175341800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:175340600-175343800	Weak transcription	Hela-S3	cervix
5	chr4:175340600-175345800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:175340600-175345800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:175340800-175342800	Enhancers	Primary B cells from cord blood	blood
8	chr4:175340800-175344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:175340800-175344600	Weak transcription	Placenta	Placenta
10	chr4:175341000-175342000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr4:175341200-175342200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:175341400-175341800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:175341400-175342200	Flanking Active TSS	K562	blood
14	chr4:175341600-175342200	Enhancers	Primary hematopoietic stem cells	blood

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