Variant report

Variant	rs4346541
Chromosome Location	chr3:50910499-50910500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10510754	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11712367	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11917538	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928733	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12639243	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379873	0.80[EUR][1000 genomes]
rs1379874	0.80[EUR][1000 genomes]
rs1379875	0.80[EUR][1000 genomes]
rs1458385	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1531271	0.80[EUR][1000 genomes]
rs1598926	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1598927	0.81[EUR][1000 genomes]
rs1598928	0.80[EUR][1000 genomes]
rs1841067	0.80[EUR][1000 genomes]
rs2085582	0.80[EUR][1000 genomes]
rs2085584	0.80[EUR][1000 genomes]
rs2085585	0.80[EUR][1000 genomes]
rs2085586	0.80[EUR][1000 genomes]
rs2168865	0.80[EUR][1000 genomes]
rs2219431	0.80[EUR][1000 genomes]
rs2219432	0.80[EUR][1000 genomes]
rs2219433	0.81[EUR][1000 genomes]
rs2355350	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2355697	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2355700	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355702	0.81[EUR][1000 genomes]
rs2608990	0.80[EUR][1000 genomes]
rs2609016	0.80[EUR][1000 genomes]
rs2609018	0.80[EUR][1000 genomes]
rs2609019	0.80[EUR][1000 genomes]
rs2609028	0.80[EUR][1000 genomes]
rs2675784	0.80[EUR][1000 genomes]
rs2675819	0.80[EUR][1000 genomes]
rs2675821	0.80[EUR][1000 genomes]
rs2675822	0.80[EUR][1000 genomes]
rs2675825	0.80[EUR][1000 genomes]
rs35193996	0.80[EUR][1000 genomes]
rs36057916	0.80[EUR][1000 genomes]
rs4346542	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447760	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4485709	0.81[AMR][1000 genomes]
rs4530518	0.81[EUR][1000 genomes]
rs61108141	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6446220	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6446222	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6446243	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446245	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66472954	0.80[EUR][1000 genomes]
rs66684483	0.80[EUR][1000 genomes]
rs67211895	0.80[EUR][1000 genomes]
rs67672341	0.80[EUR][1000 genomes]
rs6769733	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6795573	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71329017	0.80[EUR][1000 genomes]
rs7433217	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7614482	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7616183	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7621650	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7627266	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7638082	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7639301	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7639828	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7642158	0.81[EUR][1000 genomes]
rs9820606	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9824444	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9824522	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9825535	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831288	0.83[AMR][1000 genomes]
rs9832952	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9838433	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9859692	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9867489	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9869945	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9875961	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9877272	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[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	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	nsv10271	chr3:50890189-50913514	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	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
5	esv1821924	chr3:50902513-50912905	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3389505	chr3:50909037-50912632	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50909800-50910600	ZNF genes & repeats	Esophagus	oesophagus
2	chr3:50909800-50910800	Enhancers	GM12878-XiMat	blood
3	chr3:50910000-50911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:50910200-50911200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:50910200-50911400	Enhancers	Brain Substantia Nigra	brain
6	chr3:50910200-50911400	Enhancers	Left Ventricle	heart
7	chr3:50910200-50911600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:50910400-50911000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:50910400-50911400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:50910400-50911400	Enhancers	Right Ventricle	heart

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