Variant report

Variant	rs4655688
Chromosome Location	chr1:67657982-67657983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr1:67657003-67658357	K562	blood:	n/a	n/a
2	UBTF	chr1:67657866-67658076	K562	blood:	n/a	n/a
3	TAL1	chr1:67657349-67658159	K562	blood:	n/a	n/a
4	MAX	chr1:67657947-67658116	K562	blood:	n/a	n/a
5	EP300	chr1:67656811-67658401	K562	blood:	n/a	n/a
6	GATA1	chr1:67657110-67658334	PBDE	blood:	n/a	n/a
7	GATA2	chr1:67657703-67658189	K562	blood:	n/a	n/a
8	CEBPD	chr1:67657345-67658243	K562	blood:	n/a	n/a
9	TEAD4	chr1:67657781-67658238	K562	blood:	n/a	n/a
10	ATF1	chr1:67657379-67658139	K562	blood:	n/a	n/a
11	CEBPD	chr1:67657325-67658189	K562	blood:	n/a	n/a
12	UBTF	chr1:67657460-67658027	K562	blood:	n/a	n/a
13	MAZ	chr1:67657163-67658145	K562	blood:	n/a	n/a
14	TEAD4	chr1:67657177-67658262	K562	blood:	n/a	n/a
15	ARID3A	chr1:67656645-67658163	K562	blood:	n/a	n/a
16	CCNT2	chr1:67657066-67658139	K562	blood:	n/a	n/a
17	CUX1	chr1:67656836-67658737	K562	blood:	n/a	n/a
18	HMGN3	chr1:67657969-67658169	K562	blood:	n/a	n/a
19	MYC	chr1:67657358-67658147	K562	blood:	n/a	n/a
20	GATA1	chr1:67656202-67658979	K562	blood:	n/a	n/a
21	JUN	chr1:67657034-67658523	K562	blood:	n/a	chr1:67658457-67658470
22	RCOR1	chr1:67656704-67658952	K562	blood:	n/a	n/a
23	JUND	chr1:67656788-67658727	K562	blood:	n/a	n/a
24	MAFF	chr1:67656983-67658446	K562	blood:	n/a	n/a
25	IRF1	chr1:67657101-67658344	K562	blood:	n/a	n/a
26	TBL1XR1	chr1:67656987-67658325	K562	blood:	n/a	n/a
27	IRF1	chr1:67656872-67658306	K562	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67518920..67521016-chr1:67656930..67658659,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-586P	TF binding region
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10127763	0.84[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10889665	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889667	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889668	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11801083	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321156	0.91[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs1358748	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358749	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884443	0.93[EUR][1000 genomes]
rs2064691	0.91[EUR][1000 genomes]
rs2180296	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2863203	0.95[EUR][1000 genomes]
rs4655521	0.87[EUR][1000 genomes]
rs4655522	0.87[EUR][1000 genomes]
rs4655681	0.94[EUR][1000 genomes]
rs4655689	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655690	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588247	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6666144	0.91[EUR][1000 genomes]
rs6683455	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684024	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687620	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703475	0.91[EUR][1000 genomes]
rs7518757	0.86[EUR][1000 genomes]
rs7540900	0.91[CEU][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4655688	WLS	cis	parietal	SCAN
rs4655688	IL23R	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67656000-67658000	Enhancers	Osteobl	bone
2	chr1:67656000-67659400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:67656000-67661200	Weak transcription	Small Intestine	intestine
4	chr1:67656000-67663400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:67656600-67658400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:67656600-67659000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:67656800-67658000	Enhancers	Hela-S3	cervix
8	chr1:67656800-67661400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:67656800-67661400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:67657000-67658400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:67657000-67658800	Flanking Active TSS	K562	blood
12	chr1:67657400-67658000	Weak transcription	Fetal Lung	lung
13	chr1:67657400-67661800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:67657600-67658000	Weak transcription	GM12878-XiMat	blood
15	chr1:67657600-67659200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:67657800-67659400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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