Variant report

Variant	rs41362848
Chromosome Location	chr1:158256810-158256811
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	RELA	chr1:158255385-158257313	GM12891	blood:	n/a	n/a
2	EP300	chr1:158256789-158256952	GM12878	blood:	n/a	n/a
3	TBP	chr1:158256387-158257048	GM12878	blood:	n/a	n/a
4	CHD2	chr1:158256344-158257099	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr1:158256392-158257218	GM12878	blood:	n/a	n/a
6	FOXM1	chr1:158256166-158257260	GM12878	blood:	n/a	n/a
7	MEF2A	chr1:158256644-158257209	GM12878	blood:	n/a	n/a
8	TCF12	chr1:158256692-158256932	GM12878	blood:	n/a	n/a
9	ELF1	chr1:158256596-158257204	GM12878	blood:	n/a	n/a
10	TCF3	chr1:158256795-158257112	GM12878	blood:	n/a	n/a
11	ZNF384	chr1:158256523-158256835	GM12878	blood:	n/a	n/a
12	MAZ	chr1:158255207-158256899	GM12878	blood:	n/a	chr1:158255679-158255690 chr1:158255680-158255689 chr1:158255680-158255689 chr1:158255675-158255694
13	IKZF1	chr1:158255300-158257149	GM12878	blood:	n/a	n/a
14	RELA	chr1:158256333-158257205	GM12878	blood:	n/a	n/a
15	ATF2	chr1:158256304-158257345	GM12878	blood:	n/a	n/a
16	ATF2	chr1:158256751-158257221	GM12878	blood:	n/a	n/a
17	NFIC	chr1:158255253-158257293	GM12878	blood:	n/a	n/a
18	NFIC	chr1:158256134-158257250	GM12878	blood:	n/a	n/a
19	ETS1	chr1:158256702-158257252	GM12878	blood:	n/a	n/a
20	BCLAF1	chr1:158256654-158257320	GM12878	blood:	n/a	n/a
21	WRNIP1	chr1:158256350-158257215	GM12878	blood:	n/a	n/a
22	EP300	chr1:158255256-158257185	GM12878	blood:	n/a	chr1:158255653-158255667
23	CUX1	chr1:158256755-158257038	GM12878	blood:	n/a	n/a
24	RELA	chr1:158255402-158257373	GM18505	blood:	n/a	n/a
25	EGR1	chr1:158256783-158257127	GM12878	blood:	n/a	n/a
26	BATF	chr1:158256759-158257165	GM12878	blood:	n/a	n/a
27	RELA	chr1:158255445-158257160	GM18951	blood:	n/a	n/a
28	PAX5	chr1:158256706-158257268	GM12878	blood:	n/a	n/a
29	MTA3	chr1:158255293-158257271	GM12878	blood:	n/a	n/a
30	STAT3	chr1:158256347-158256861	GM12878	blood:	n/a	n/a
31	EBF1	chr1:158255135-158256920	GM12878	blood:	n/a	chr1:158255287-158255300 chr1:158255289-158255298
32	BCL11A	chr1:158256690-158257186	GM12878	blood:	n/a	n/a
33	RCOR1	chr1:158255418-158257068	GM12878	blood:	n/a	n/a
34	EP300	chr1:158255387-158257250	GM12878	blood:	n/a	chr1:158255653-158255667
35	FOXM1	chr1:158256290-158257248	GM12878	blood:	n/a	n/a
36	RELA	chr1:158255458-158257179	GM10847	blood:	n/a	n/a
37	RELA	chr1:158255381-158257195	GM19099	blood:	n/a	n/a
38	MTA3	chr1:158255339-158257232	GM12878	blood:	n/a	n/a
39	RUNX3	chr1:158255261-158257302	GM12878	blood:	n/a	n/a
40	RUNX3	chr1:158256259-158257250	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158256166..158257675-chr1:158260420..158262992,2	K562	blood:

Variant related genes	Relation type
CD1C	TF binding region
ENSG00000158481	Chromatin interaction

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

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

rs_ID	r²[population]
rs16840067	0.84[ASW][hapmap];0.92[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17273762	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138100	0.84[ASW][hapmap];0.92[LWK][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138102	0.84[ASW][hapmap];0.92[LWK][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3138106	0.84[ASW][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41403751	0.84[ASW][hapmap];0.94[YRI][hapmap];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	0.84[ASW][hapmap];0.92[LWK][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap];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]
rs73023933	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:14 , 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	chr1:158253800-158262600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:158254600-158259000	Enhancers	Fetal Thymus	thymus
5	chr1:158255000-158257200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:158255200-158257200	Flanking Active TSS	GM12878-XiMat	blood
7	chr1:158255400-158258600	Enhancers	Primary T cells from cord blood	blood
8	chr1:158255600-158259400	Enhancers	Thymus	Thymus
9	chr1:158255800-158259600	Weak transcription	Spleen	Spleen
10	chr1:158256000-158257200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:158256400-158257600	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:158256600-158257000	Enhancers	Adipose Nuclei	Adipose
13	chr1:158256600-158257000	Enhancers	Dnd41	blood
14	chr1:158256800-158259400	Enhancers	Primary B cells from peripheral blood	blood

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