Variant report

Variant	rs59818390
Chromosome Location	chr11:63738571-63738572
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	GATA3	chr11:63738423-63738720	T-47D	breast:	n/a	n/a
2	POLR2A	chr11:63738042-63739518	K562	blood:	n/a	n/a
3	SPI1	chr11:63738529-63738745	K562	blood:	n/a	n/a
4	MYC	chr11:63738379-63738686	NB4	blood:	n/a	chr11:63738467-63738477
5	SPI1	chr11:63738355-63738893	HL-60	blood:	n/a	n/a
6	MAX	chr11:63738469-63738675	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:63738348-63738630	HepG2	liver:	n/a	n/a
8	E2F6	chr11:63738381-63738702	K562	blood:	n/a	n/a
9	CHD2	chr11:63738490-63738591	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:63738551-63739425	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr11:63738413-63738655	K562	blood:	n/a	chr11:63738467-63738477
12	EP300	chr11:63738490-63738703	K562	blood:	n/a	n/a
13	JUND	chr11:63738511-63738672	K562	blood:	n/a	n/a
14	MAZ	chr11:63738414-63738606	HepG2	liver:	n/a	chr11:63738467-63738477
15	CBX3	chr11:63738393-63738809	K562	blood:	n/a	n/a
16	MAX	chr11:63738404-63738744	NB4	blood:	n/a	chr11:63738467-63738477
17	ELF1	chr11:63738386-63738795	K562	blood:	n/a	n/a
18	MAX	chr11:63738248-63738735	K562	blood:	n/a	chr11:63738467-63738477
19	CEBPB	chr11:63738282-63738630	HepG2	liver:	n/a	n/a
20	BHLHE40	chr11:63738423-63738788	K562	blood:	n/a	n/a
21	E2F6	chr11:63738429-63738626	K562	blood:	n/a	n/a
22	POLR2A	chr11:63738334-63738717	K562	blood:	n/a	n/a
23	TEAD4	chr11:63738296-63738805	K562	blood:	n/a	n/a
24	POLR2A	chr11:63738353-63738842	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr11:63738483-63738758	K562	blood:	n/a	n/a
26	USF1	chr11:63738397-63738761	K562	blood:	n/a	n/a
27	E2F6	chr11:63738349-63738755	K562	blood:	n/a	n/a
28	MXI1	chr11:63738392-63738592	HepG2	liver:	n/a	n/a
29	MAX	chr11:63738374-63738674	K562	blood:	n/a	chr11:63738467-63738477
30	MAX	chr11:63738414-63738700	K562	blood:	n/a	chr11:63738467-63738477

Variant related genes	Relation type
ENSG00000256100	TF binding region
COX8A	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11822339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11827620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1392118	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2133547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2133548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs320112	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs320117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs320124	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56781057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57899119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60791209	0.87[ASN][1000 genomes]
rs61141225	0.87[ASN][1000 genomes]
rs6591831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6591832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7106236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7113021	0.96[AFR][1000 genomes]
rs7127354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7130187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496067	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73496068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63729600-63741600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:63736600-63739200	Enhancers	K562	blood
3	chr11:63737400-63739400	Enhancers	HepG2	liver
4	chr11:63737600-63739600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:63738000-63739000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:63738200-63738600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:63738200-63739000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:63738400-63738600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:63738400-63738600	Enhancers	Spleen	Spleen
10	chr11:63738400-63741600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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