Variant report

Variant	rs73023933
Chromosome Location	chr1:158255713-158255714
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	IRF4	chr1:158255423-158255959	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:158255487-158256079	HL-60	blood:	n/a	n/a
3	PML	chr1:158255448-158255789	GM12878	blood:	n/a	n/a
4	USF1	chr1:158255515-158255822	GM12878	blood:	n/a	n/a
5	SPI1	chr1:158255430-158256083	GM12891	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
6	RELA	chr1:158255385-158257313	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:158255337-158256109	HL-60	blood:	n/a	n/a
8	MAX	chr1:158255500-158256068	GM12878	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
9	MAX	chr1:158255451-158256056	NB4	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
10	IRF4	chr1:158255460-158256050	GM12878	blood:	n/a	n/a
11	FOXM1	chr1:158255268-158255949	GM12878	blood:	n/a	n/a
12	ELF1	chr1:158255616-158255850	GM12878	blood:	n/a	n/a
13	SPI1	chr1:158255558-158255773	GM12878	blood:	n/a	chr1:158255716-158255725 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255658-158255667 chr1:158255713-158255726
14	SPI1	chr1:158255254-158256341	GM12878	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
15	RELA	chr1:158255366-158256130	GM12878	blood:	n/a	n/a
16	CEBPB	chr1:158255492-158255793	GM12878	blood:	n/a	n/a
17	PAX5	chr1:158255365-158256064	GM12878	blood:	n/a	chr1:158255949-158255958
18	SPI1	chr1:158255463-158256133	GM12891	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
19	EGR1	chr1:158255485-158255873	GM12878	blood:	n/a	n/a
20	PAX5	chr1:158255480-158255791	GM12878	blood:	n/a	n/a
21	SP1	chr1:158255377-158255809	GM12878	blood:	n/a	n/a
22	TBP	chr1:158255413-158255884	GM12878	blood:	n/a	n/a
23	CEBPB	chr1:158255334-158256077	GM12878	blood:	n/a	n/a
24	FOS	chr1:158255626-158255755	MCF10A-Er-Src	breast:	n/a	n/a
25	PAX5	chr1:158255496-158255839	GM12892	blood:	n/a	n/a
26	REST	chr1:158255531-158255727	Hela-S3	cervix:	n/a	chr1:158255571-158255584
27	TBL1XR1	chr1:158255409-158256049	GM12878	blood:	n/a	n/a
28	MAZ	chr1:158255207-158256899	GM12878	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
29	STAT3	chr1:158255582-158255881	GM12878	blood:	n/a	n/a
30	PAX5	chr1:158255456-158255816	GM12878	blood:	n/a	n/a
31	IKZF1	chr1:158255300-158257149	GM12878	blood:	n/a	n/a
32	SPI1	chr1:158255596-158255788	K562	blood:	n/a	chr1:158255716-158255725 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255658-158255667 chr1:158255713-158255726
33	NFATC1	chr1:158255339-158255913	GM12878	blood:	n/a	chr1:158255708-158255722
34	EBF1	chr1:158255464-158256080	GM12878	blood:	n/a	n/a
35	USF2	chr1:158255467-158255894	GM12878	blood:	n/a	n/a
36	EBF1	chr1:158255483-158256167	GM12878	blood:	n/a	n/a
37	USF1	chr1:158255531-158255832	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr1:158255512-158255885	GM12878	blood:	n/a	chr1:158255653-158255667
39	PAX5	chr1:158255372-158255847	GM12891	blood:	n/a	n/a
40	NFIC	chr1:158255253-158257293	GM12878	blood:	n/a	n/a
41	USF1	chr1:158255543-158255758	SK-N-SH_RA	brain:	n/a	n/a
42	TAF1	chr1:158255434-158255903	GM12878	blood:	n/a	n/a
43	WRNIP1	chr1:158255498-158256046	GM12878	blood:	n/a	n/a
44	SPI1	chr1:158255537-158256100	HL-60	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
45	SPI1	chr1:158255454-158256207	HL-60	blood:	n/a	chr1:158255716-158255725 chr1:158255857-158255866 chr1:158255927-158255940 chr1:158255714-158255727 chr1:158255720-158255733 chr1:158255928-158255941 chr1:158255658-158255667 chr1:158255713-158255726
46	ATF2	chr1:158255278-158256188	GM12878	blood:	n/a	n/a
47	NFIC	chr1:158255282-158256088	GM12878	blood:	n/a	n/a
48	CHD2	chr1:158255456-158255983	GM12878	blood:	n/a	n/a
49	REST	chr1:158255514-158256031	HL-60	blood:	n/a	chr1:158255571-158255584
50	FOS	chr1:158255435-158255853	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
CD1C	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16840067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17273762	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138106	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41362848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41403751	0.80[AFR][1000 genomes]
rs56796126	0.80[AFR][1000 genomes]
rs57616755	0.80[AFR][1000 genomes]
rs58054630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59278565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59593488	1.00[AMR][1000 genomes]
rs59802009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60637064	0.80[AFR][1000 genomes]
rs60785165	0.80[AFR][1000 genomes]
rs6656732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021942	0.80[AFR][1000 genomes]
rs73021943	0.80[AFR][1000 genomes]
rs73021951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023949	1.00[AMR][1000 genomes]
rs73023975	1.00[AMR][1000 genomes]
rs7512936	0.80[AFR][1000 genomes]
rs7536443	0.80[AFR][1000 genomes]
rs9658822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9659383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9662642	1.00[AFR][1000 genomes];1.00[AMR][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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv831692	chr1:158223459-158392016	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158252600-158257800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:158253000-158258000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:158253200-158256400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:158253600-158255800	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:158253800-158262600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:158254600-158259000	Enhancers	Fetal Thymus	thymus
7	chr1:158255000-158255800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:158255000-158257200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:158255200-158256000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr1:158255200-158257200	Flanking Active TSS	GM12878-XiMat	blood
11	chr1:158255400-158255800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:158255400-158255800	Enhancers	Spleen	Spleen
13	chr1:158255400-158258600	Enhancers	Primary T cells from cord blood	blood
14	chr1:158255600-158256000	Flanking Active TSS	Dnd41	blood
15	chr1:158255600-158256200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr1:158255600-158256200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:158255600-158256400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr1:158255600-158256800	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr1:158255600-158259400	Enhancers	Thymus	Thymus

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