Variant report

Variant	rs9493422
Chromosome Location	chr6:133070398-133070399
allele	A/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	EP300	chr6:133070230-133070637	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:133070249-133070406	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr6:133070279-133070537	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:133070224-133070539	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr6:133070192-133070491	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr6:133070249-133070534	Hela-S3	cervix:	n/a	n/a
7	FOS	chr6:133070229-133070522	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr6:133070255-133070702	HCT-116	colon:	n/a	n/a
9	CEBPB	chr6:133070215-133070585	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr6:133070201-133070592	HepG2	liver:	n/a	n/a
11	SETDB1	chr6:133070214-133070568	U2OS	brain:	n/a	n/a
12	CEBPD	chr6:133070261-133070496	HepG2	liver:	n/a	n/a
13	MYC	chr6:133070255-133070510	MCF10A-Er-Src	breast:	n/a	n/a
14	MXI1	chr6:133070300-133070580	HepG2	liver:	n/a	n/a
15	CEBPB	chr6:133070128-133070657	HCT-116	colon:	n/a	n/a
16	FOXA1	chr6:133070128-133070550	HepG2	liver:	n/a	chr6:133070141-133070153
17	FOS	chr6:133070223-133070545	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr6:133070174-133070467	MCF10A-Er-Src	breast:	n/a	n/a
19	ARID3A	chr6:133070203-133070674	HepG2	liver:	n/a	n/a
20	STAT3	chr6:133070271-133070448	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr6:133070311-133070497	HepG2	liver:	n/a	n/a
22	CEBPB	chr6:133070234-133070560	IMR90	lung:	n/a	n/a
23	FOXA1	chr6:133070254-133070594	HepG2	liver:	n/a	n/a
24	FOS	chr6:133070269-133070461	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr6:133070253-133070460	MCF10A-Er-Src	breast:	n/a	n/a
26	FOXA1	chr6:133070246-133070680	HepG2	liver:	n/a	n/a
27	SPI1	chr6:133070227-133070532	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000234484	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12209262	0.95[ASN][1000 genomes]
rs12661111	0.82[CEU][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12661388	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12663367	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663385	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663711	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34045817	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34171909	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34265099	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34454463	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34625012	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34696126	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34923036	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35296403	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35850139	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35954051	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36012859	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36031989	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36100139	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45447895	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45460092	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45466492	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45471497	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45528534	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45530934	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55712210	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55858629	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569833	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72992354	0.94[AMR][1000 genomes]
rs72994242	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72994245	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72994261	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994262	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994267	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994294	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72996105	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7745094	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756638	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762946	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762954	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7774124	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7774366	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9321366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483495	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9483499	0.95[ASN][1000 genomes]
rs9493421	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493427	0.95[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv517934	chr6:133062916-133072650	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3692914	chr6:133067733-133070995	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133058400-133070400	Weak transcription	Liver	Liver
2	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
3	chr6:133061600-133072200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:133062600-133070400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:133063600-133072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:133064200-133072000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:133064200-133083000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:133064600-133070400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr6:133064800-133078000	Strong transcription	Primary T cells from cord blood	blood
10	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:133065400-133073800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:133066800-133070400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:133067800-133071600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
14	chr6:133068000-133070400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:133068800-133070400	Weak transcription	Placenta	Placenta
16	chr6:133068800-133070600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:133068800-133083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:133069000-133070400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:133069600-133083200	Weak transcription	Thymus	Thymus
20	chr6:133069800-133070400	Active TSS	Primary B cells from cord blood	blood
21	chr6:133069800-133075200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:133070000-133071200	Genic enhancers	GM12878-XiMat	blood
23	chr6:133070000-133072000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:133070000-133072000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:133070000-133072200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:133070200-133070800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:133070200-133070800	Enhancers	Stomach Mucosa	stomach
28	chr6:133070200-133070800	Enhancers	NHEK	skin
29	chr6:133070200-133071200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:133070200-133073800	Genic enhancers	Primary B cells from peripheral blood	blood

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