Variant report

Variant	rs4447760
Chromosome Location	chr3:50950909-50950910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10510754	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11712367	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11917538	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11928733	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12639243	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1458385	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1598926	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2355350	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2355697	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2355700	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4346541	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4346542	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61108141	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6446220	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446222	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446239	0.81[AFR][1000 genomes]
rs6446243	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446245	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6769733	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6795573	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7433217	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7614482	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7616183	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7621650	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7627266	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7638082	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7639301	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7639828	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9681865	0.83[AMR][1000 genomes]
rs9820606	0.82[AMR][1000 genomes]
rs9824444	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9824522	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9825535	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9831288	0.81[AMR][1000 genomes]
rs9832952	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9838433	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9859692	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9867489	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9869945	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9875961	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9877272	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1004881	chr3:50900793-51032918	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536568	chr3:50900793-51032918	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1008585	chr3:50936180-50955418	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3334402	chr3:50941380-50956775	Genic enhancers Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3492813	chr3:50943030-50957425	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3492814	chr3:50943030-50957425	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
8	esv20176	chr3:50945260-50955050	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50949800-50951000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr3:50949800-50951200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr3:50949800-50951200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:50949800-50951200	Enhancers	Gastric	stomach
5	chr3:50950000-50951200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:50950000-50951200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:50950000-50951400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:50950200-50951400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:50950400-50951200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:50950400-50951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:50950400-50959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:50950600-50951200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:50950800-50951200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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