Variant report

Variant	rs4682440
Chromosome Location	chr3:112565073-112565074
allele	A/C
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	GATA3	chr3:112564811-112565187	MCF-7	breast:	n/a	n/a
2	GATA3	chr3:112564642-112565128	SH-SY5Y	brain:	n/a	chr3:112564721-112564730 chr3:112564717-112564733 chr3:112564714-112564735

Variant related genes	Relation type
CD200R1L	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1016348	0.83[ASN][1000 genomes]
rs10934190	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10934192	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934193	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497951	0.84[ASN][1000 genomes]
rs13326243	0.96[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392786	0.82[ASN][1000 genomes]
rs1466872	0.83[ASN][1000 genomes]
rs1500879	0.98[ASN][1000 genomes]
rs1971986	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2101440	0.98[ASN][1000 genomes]
rs2171509	0.83[ASN][1000 genomes]
rs2399436	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2399443	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4103791	0.84[ASN][1000 genomes]
rs4234417	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682120	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682125	0.84[ASN][1000 genomes]
rs4682441	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682444	1.00[ASN][1000 genomes]
rs6438111	0.82[AFR][1000 genomes]
rs6438112	0.82[AFR][1000 genomes]
rs6438113	0.81[AFR][1000 genomes]
rs6438118	0.83[ASN][1000 genomes]
rs6438119	0.83[ASN][1000 genomes]
rs6438120	0.83[ASN][1000 genomes]
rs6438122	0.81[ASN][1000 genomes]
rs6766388	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769091	0.84[ASN][1000 genomes]
rs6772799	0.83[ASN][1000 genomes]
rs6784838	0.84[ASN][1000 genomes]
rs6791158	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6791672	0.98[ASN][1000 genomes]
rs6808249	0.81[ASN][1000 genomes]
rs7355890	0.83[ASN][1000 genomes]
rs7611690	0.83[ASN][1000 genomes]
rs7615462	0.84[ASN][1000 genomes]
rs7622812	0.83[ASN][1000 genomes]
rs7622814	0.82[ASN][1000 genomes]
rs7632218	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7646849	0.84[ASN][1000 genomes]
rs7652504	0.83[ASN][1000 genomes]
rs7652536	0.98[ASN][1000 genomes]
rs9815606	0.83[ASN][1000 genomes]
rs9818564	0.81[AFR][1000 genomes]
rs9819079	0.81[ASN][1000 genomes]
rs9823363	0.84[ASN][1000 genomes]
rs9826308	0.83[ASN][1000 genomes]
rs9833991	0.84[ASN][1000 genomes]
rs9834353	0.83[ASN][1000 genomes]
rs9834840	0.84[ASN][1000 genomes]
rs9847365	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854885	0.84[ASN][1000 genomes]
rs9864295	0.83[ASN][1000 genomes]
rs9865242	0.83[ASN][1000 genomes]
rs9868053	0.83[ASN][1000 genomes]
rs9868839	0.98[ASN][1000 genomes]
rs9870335	0.84[ASN][1000 genomes]
rs9870568	0.83[ASN][1000 genomes]
rs9871985	0.84[ASN][1000 genomes]
rs9875551	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9877631	0.84[ASN][1000 genomes]
rs9883255	0.95[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3501334	chr3:112546820-112648766	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3501335	chr3:112546820-112648766	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112562800-112566400	Weak transcription	Primary B cells from cord blood	blood

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