Variant report

Variant	rs34756253
Chromosome Location	chr3:50567007-50567008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50566678..50573015-chr3:50574866..50578180,7	K562	blood:
2	chr3:50564906..50567143-chr3:50571268..50573066,2	MCF-7	breast:
3	chr3:50560226..50564542-chr3:50564835..50568102,5	K562	blood:
4	chr3:50561864..50565057-chr3:50565315..50568645,4	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:191)

rs_ID	r²[population]
rs1034405	0.93[EUR][1000 genomes]
rs11130252	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11130255	1.00[AFR][1000 genomes]
rs11719998	0.90[EUR][1000 genomes]
rs12491425	0.89[EUR][1000 genomes]
rs12493985	0.84[EUR][1000 genomes]
rs129310	0.83[EUR][1000 genomes]
rs13065995	0.88[AFR][1000 genomes]
rs13075344	1.00[AFR][1000 genomes]
rs13075377	0.88[AFR][1000 genomes]
rs13076850	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13083004	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13084476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13084771	1.00[AFR][1000 genomes]
rs13085096	1.00[AFR][1000 genomes]
rs13089719	1.00[AFR][1000 genomes]
rs13091933	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13094336	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13095920	1.00[AFR][1000 genomes]
rs13096264	0.94[AFR][1000 genomes]
rs13096268	0.88[AFR][1000 genomes]
rs13096772	1.00[AFR][1000 genomes]
rs1458386	1.00[AFR][1000 genomes]
rs1458387	1.00[AFR][1000 genomes]
rs1463496	0.84[AFR][1000 genomes]
rs1463497	1.00[AFR][1000 genomes]
rs1563683	1.00[AFR][1000 genomes]
rs175634	0.82[EUR][1000 genomes]
rs17660179	0.88[AFR][1000 genomes]
rs17660513	0.88[AFR][1000 genomes]
rs17787569	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1824280	1.00[AFR][1000 genomes]
rs1902960	1.00[AFR][1000 genomes]
rs1947607	0.88[AFR][1000 genomes]
rs1966920	0.88[AFR][1000 genomes]
rs1975834	0.89[AFR][1000 genomes]
rs201194	0.90[EUR][1000 genomes]
rs201196	0.93[EUR][1000 genomes]
rs201197	0.82[EUR][1000 genomes]
rs201198	0.93[EUR][1000 genomes]
rs2061388	0.88[AFR][1000 genomes]
rs2085587	0.88[AFR][1000 genomes]
rs2125366	1.00[AFR][1000 genomes]
rs2125369	1.00[AFR][1000 genomes]
rs2168863	0.88[AFR][1000 genomes]
rs2168866	1.00[AFR][1000 genomes]
rs2199050	0.88[AFR][1000 genomes]
rs2227280	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2232248	0.85[EUR][1000 genomes]
rs2232253	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2262810	0.88[AFR][1000 genomes]
rs2269507	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2355321	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2355323	0.84[EUR][1000 genomes]
rs2355341	1.00[AFR][1000 genomes]
rs2355696	0.88[AFR][1000 genomes]
rs2608989	1.00[AFR][1000 genomes]
rs2608993	0.88[AFR][1000 genomes]
rs2608997	0.88[AFR][1000 genomes]
rs2608999	0.88[AFR][1000 genomes]
rs2609001	0.88[AFR][1000 genomes]
rs2609005	0.88[AFR][1000 genomes]
rs2609006	0.88[AFR][1000 genomes]
rs2609020	0.88[AFR][1000 genomes]
rs2609021	0.88[AFR][1000 genomes]
rs2609022	0.88[AFR][1000 genomes]
rs2609024	1.00[AFR][1000 genomes]
rs2609025	1.00[AFR][1000 genomes]
rs2609035	1.00[AFR][1000 genomes]
rs2609036	1.00[AFR][1000 genomes]
rs2609037	0.88[AFR][1000 genomes]
rs2675769	1.00[AFR][1000 genomes]
rs2675772	1.00[AFR][1000 genomes]
rs2675773	1.00[AFR][1000 genomes]
rs2675774	1.00[AFR][1000 genomes]
rs2675787	0.88[AFR][1000 genomes]
rs2675788	0.88[AFR][1000 genomes]
rs2675789	0.88[AFR][1000 genomes]
rs2675790	0.88[AFR][1000 genomes]
rs2675791	0.88[AFR][1000 genomes]
rs2675792	0.88[AFR][1000 genomes]
rs2675793	0.88[AFR][1000 genomes]
rs2675794	0.88[AFR][1000 genomes]
rs2675799	0.82[AFR][1000 genomes]
rs2675800	0.88[AFR][1000 genomes]
rs2675802	1.00[AFR][1000 genomes]
rs2675806	0.88[AFR][1000 genomes]
rs2675809	1.00[AFR][1000 genomes]
rs2675810	1.00[AFR][1000 genomes]
rs2675812	0.88[AFR][1000 genomes]
rs2675813	0.88[AFR][1000 genomes]
rs2675827	0.88[AFR][1000 genomes]
rs2675828	0.88[AFR][1000 genomes]
rs2675829	0.88[AFR][1000 genomes]
rs2675830	0.88[AFR][1000 genomes]
rs2675832	0.88[AFR][1000 genomes]
rs2675834	0.88[AFR][1000 genomes]
rs2675835	0.82[AFR][1000 genomes]
rs2675836	0.88[AFR][1000 genomes]
rs2675837	0.88[AFR][1000 genomes]
rs3101107	0.88[AFR][1000 genomes]
rs3106826	0.88[AFR][1000 genomes]
rs34048522	0.88[AFR][1000 genomes]
rs34202063	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34266990	1.00[AFR][1000 genomes]
rs34267788	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34320663	0.88[AFR][1000 genomes]
rs34390947	1.00[AFR][1000 genomes]
rs34399912	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34434811	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34492910	0.89[AFR][1000 genomes]
rs34576538	0.88[AFR][1000 genomes]
rs34584636	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34632971	1.00[AFR][1000 genomes]
rs34773360	1.00[AFR][1000 genomes]
rs34846525	1.00[AFR][1000 genomes]
rs34866096	1.00[AFR][1000 genomes]
rs34889917	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35098074	0.88[AFR][1000 genomes]
rs35140911	1.00[AFR][1000 genomes]
rs35170043	1.00[AFR][1000 genomes]
rs35429015	1.00[AFR][1000 genomes]
rs35531616	1.00[AFR][1000 genomes]
rs35566897	1.00[AFR][1000 genomes]
rs35655236	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35690191	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35714264	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35864641	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35908181	0.85[ASN][1000 genomes]
rs36011798	0.89[AFR][1000 genomes]
rs3804627	0.84[EUR][1000 genomes]
rs3804628	1.00[AFR][1000 genomes]
rs391620	0.90[EUR][1000 genomes]
rs3940822	0.88[AFR][1000 genomes]
rs398703	0.89[EUR][1000 genomes]
rs399484	0.90[EUR][1000 genomes]
rs399971	0.82[EUR][1000 genomes]
rs417592	0.84[EUR][1000 genomes]
rs441516	0.84[EUR][1000 genomes]
rs4429624	1.00[AFR][1000 genomes]
rs443030	0.83[EUR][1000 genomes]
rs4533647	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs453570	0.84[EUR][1000 genomes]
rs4688702	0.89[AFR][1000 genomes]
rs4688703	1.00[AFR][1000 genomes]
rs4688712	0.81[EUR][1000 genomes]
rs490634	0.89[EUR][1000 genomes]
rs5000953	1.00[AFR][1000 genomes]
rs59909173	0.94[AFR][1000 genomes]
rs59949730	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61142614	0.87[AFR][1000 genomes]
rs61549968	1.00[AFR][1000 genomes]
rs622502	0.81[EUR][1000 genomes]
rs628081	0.85[EUR][1000 genomes]
rs6446215	1.00[AFR][1000 genomes]
rs66867590	1.00[AFR][1000 genomes]
rs67316637	0.88[AFR][1000 genomes]
rs67410403	0.88[AFR][1000 genomes]
rs67425923	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67588094	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6768300	0.80[EUR][1000 genomes]
rs6775012	1.00[AFR][1000 genomes]
rs67813889	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6784166	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6787521	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6791880	1.00[AFR][1000 genomes]
rs68191286	1.00[AFR][1000 genomes]
rs695170	0.84[EUR][1000 genomes]
rs71326937	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71326944	1.00[AFR][1000 genomes]
rs71326945	0.94[AFR][1000 genomes]
rs71329007	0.88[AFR][1000 genomes]
rs71329008	0.82[AFR][1000 genomes]
rs73072418	1.00[AFR][1000 genomes]
rs73072438	1.00[AFR][1000 genomes]
rs73072442	1.00[AFR][1000 genomes]
rs73082948	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73833888	0.88[AFR][1000 genomes]
rs73835540	0.94[AFR][1000 genomes]
rs750453	0.90[EUR][1000 genomes]
rs750510	0.84[EUR][1000 genomes]
rs7629253	1.00[AFR][1000 genomes]
rs7646236	0.84[EUR][1000 genomes]
rs7650574	1.00[AFR][1000 genomes]
rs7652260	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs809451	0.81[EUR][1000 genomes]
rs809454	0.80[EUR][1000 genomes]
rs936405	1.00[AFR][1000 genomes]
rs936406	1.00[AFR][1000 genomes]
rs9830920	0.86[EUR][1000 genomes]
rs9839684	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50558800-50570600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:50561400-50567200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:50564000-50567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:50564400-50567200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:50565000-50567400	Weak transcription	Brain Germinal Matrix	brain
6	chr3:50566800-50567200	Weak transcription	Spleen	Spleen
7	chr3:50566800-50568800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr3:50566800-50569200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr3:50567000-50567600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr3:50567000-50568000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr3:50567000-50568800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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