Variant report

Variant	rs1488260
Chromosome Location	chr3:112233945-112233946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10934177	1.00[ASN][1000 genomes]
rs1385527	1.00[ASN][1000 genomes]
rs1386896	1.00[ASN][1000 genomes]
rs1388442	1.00[ASN][1000 genomes]
rs1472106	1.00[ASN][1000 genomes]
rs1472107	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488262	1.00[ASN][1000 genomes]
rs1491629	1.00[ASN][1000 genomes]
rs1532198	1.00[ASN][1000 genomes]
rs1552707	1.00[ASN][1000 genomes]
rs1814053	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1817694	1.00[ASN][1000 genomes]
rs1844864	1.00[ASN][1000 genomes]
rs1877362	1.00[ASN][1000 genomes]
rs1877364	1.00[ASN][1000 genomes]
rs1906519	1.00[ASN][1000 genomes]
rs2029317	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399431	1.00[ASN][1000 genomes]
rs2464612	1.00[ASN][1000 genomes]
rs2638025	1.00[ASN][1000 genomes]
rs2638030	1.00[ASN][1000 genomes]
rs2638033	1.00[ASN][1000 genomes]
rs2638034	1.00[ASN][1000 genomes]
rs2638036	1.00[ASN][1000 genomes]
rs2638041	1.00[ASN][1000 genomes]
rs2638043	1.00[ASN][1000 genomes]
rs2638044	1.00[ASN][1000 genomes]
rs2668216	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705506	0.86[ASN][1000 genomes]
rs2705510	1.00[ASN][1000 genomes]
rs2705514	1.00[ASN][1000 genomes]
rs2705520	1.00[ASN][1000 genomes]
rs2705524	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2705551	1.00[ASN][1000 genomes]
rs2705554	1.00[ASN][1000 genomes]
rs2705563	1.00[ASN][1000 genomes]
rs2933139	1.00[ASN][1000 genomes]
rs2933140	1.00[ASN][1000 genomes]
rs2969894	1.00[ASN][1000 genomes]
rs3109033	0.86[ASN][1000 genomes]
rs62264580	0.83[ASN][1000 genomes]
rs6793232	1.00[ASN][1000 genomes]
rs7618978	1.00[ASN][1000 genomes]
rs901829	1.00[ASN][1000 genomes]
rs971832	1.00[ASN][1000 genomes]
rs986883	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1005323	chr3:112171990-112274613	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112218800-112241600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr3:112227400-112269800	Weak transcription	Small Intestine	intestine
3	chr3:112231600-112246800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:112232600-112234000	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:112233000-112234200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:112233400-112236600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:112233600-112234400	Flanking Active TSS	GM12878-XiMat	blood
8	chr3:112233800-112234000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:112233800-112236600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:112233800-112236800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:112233800-112236800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:112233800-112237000	Weak transcription	Primary B cells from cord blood	blood
13	chr3:112233800-112237800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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