Variant report

Variant	rs28610997
Chromosome Location	chr5:93248374-93248375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93227743..93229810-chr5:93246414..93248576,2	K562	blood:

Extended variants
information (count: 203 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:196)

rs_ID	r²[population]
rs10036829	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10036891	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10038424	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10038828	0.97[ASN][1000 genomes]
rs10038831	0.97[ASN][1000 genomes]
rs10041792	0.83[ASN][1000 genomes]
rs10044139	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10045836	0.97[ASN][1000 genomes]
rs10050364	0.83[ASN][1000 genomes]
rs10050465	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10051878	0.85[ASN][1000 genomes]
rs10052662	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053405	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10054790	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054903	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10055340	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10055741	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10056879	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10057130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10057664	0.94[ASN][1000 genomes]
rs10057814	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10058331	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10060160	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10060331	0.83[ASN][1000 genomes]
rs10061080	0.83[AMR][1000 genomes]
rs10061099	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10061377	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10062711	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10063612	0.84[EUR][1000 genomes]
rs10064158	0.83[ASN][1000 genomes]
rs10064368	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10065056	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10066431	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10066791	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10067259	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10067754	0.83[ASN][1000 genomes]
rs10070350	0.88[ASN][1000 genomes]
rs10071040	0.83[ASN][1000 genomes]
rs10072232	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10072592	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10075217	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10076052	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10076192	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10076965	0.83[ASN][1000 genomes]
rs10078194	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10078941	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10079708	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10214278	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1026279	0.94[ASN][1000 genomes]
rs1031424	0.97[ASN][1000 genomes]
rs10476520	0.83[ASN][1000 genomes]
rs10476522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476588	0.94[ASN][1000 genomes]
rs10476590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476591	0.83[EUR][1000 genomes]
rs10476596	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10476597	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10476598	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10476599	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10476601	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10514380	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11135397	0.94[ASN][1000 genomes]
rs12054831	0.94[ASN][1000 genomes]
rs12109629	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12152763	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12153501	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12153506	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12153788	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12188163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332731	0.83[ASN][1000 genomes]
rs12374463	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12374470	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12653528	0.94[ASN][1000 genomes]
rs12716453	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716454	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716456	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12716457	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12716460	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13153245	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13153987	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13154000	0.85[ASN][1000 genomes]
rs13154650	0.85[ASN][1000 genomes]
rs13155452	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13156202	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13156865	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13164315	0.97[ASN][1000 genomes]
rs13165147	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13165400	0.85[ASN][1000 genomes]
rs13169675	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13170509	0.84[EUR][1000 genomes]
rs13171131	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13173952	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13177800	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13178857	0.80[ASN][1000 genomes]
rs13182631	0.97[ASN][1000 genomes]
rs13185660	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13186579	0.85[EUR][1000 genomes]
rs13357713	0.97[ASN][1000 genomes]
rs13361613	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349711	0.94[ASN][1000 genomes]
rs1453003	0.82[ASN][1000 genomes]
rs1470150	0.97[ASN][1000 genomes]
rs167570	0.85[ASN][1000 genomes]
rs17083297	0.80[ASN][1000 genomes]
rs17083377	0.94[ASN][1000 genomes]
rs17312456	0.85[ASN][1000 genomes]
rs17314074	0.82[EUR][1000 genomes]
rs17314762	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17314797	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17314825	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17315943	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17372057	0.85[ASN][1000 genomes]
rs17372615	0.97[ASN][1000 genomes]
rs17372649	0.97[ASN][1000 genomes]
rs17372725	0.97[ASN][1000 genomes]
rs17374166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17374627	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1901736	0.94[ASN][1000 genomes]
rs1982439	0.94[ASN][1000 genomes]
rs2045019	0.91[ASN][1000 genomes]
rs2045020	0.94[ASN][1000 genomes]
rs2045021	0.89[ASN][1000 genomes]
rs2084916	0.94[ASN][1000 genomes]
rs2085960	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2290937	0.84[EUR][1000 genomes]
rs28412976	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418572	0.91[ASN][1000 genomes]
rs28526002	0.83[ASN][1000 genomes]
rs28534784	0.85[ASN][1000 genomes]
rs28575883	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28594545	0.83[ASN][1000 genomes]
rs28645862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28705226	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2924374	0.85[ASN][1000 genomes]
rs34138834	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34184666	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34454564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34592268	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595581	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34621188	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34673483	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34891708	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34967135	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35075119	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35107028	0.85[ASN][1000 genomes]
rs35372313	0.83[ASN][1000 genomes]
rs35426871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35496867	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35747258	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35791029	0.83[ASN][1000 genomes]
rs35878747	0.83[ASN][1000 genomes]
rs36042718	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55724660	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55832164	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55947981	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56108532	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6556834	0.94[ASN][1000 genomes]
rs6556839	0.85[ASN][1000 genomes]
rs66564678	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67150649	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67328989	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68122392	0.83[ASN][1000 genomes]
rs6859757	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865441	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6874766	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6877030	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6877616	0.83[ASN][1000 genomes]
rs6879620	0.94[ASN][1000 genomes]
rs6881815	0.88[ASN][1000 genomes]
rs6890998	0.83[ASN][1000 genomes]
rs6892055	0.91[ASN][1000 genomes]
rs6895356	0.83[ASN][1000 genomes]
rs6898507	0.83[ASN][1000 genomes]
rs6898842	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72786647	0.85[ASN][1000 genomes]
rs72786702	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788365	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7701011	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7701114	0.83[ASN][1000 genomes]
rs7701314	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701974	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7702521	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7702649	0.83[ASN][1000 genomes]
rs7713956	0.94[ASN][1000 genomes]
rs7715562	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7728736	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7729807	0.88[ASN][1000 genomes]
rs7734897	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7736620	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7736892	0.91[ASN][1000 genomes]
rs896729	0.94[ASN][1000 genomes]
rs9314086	0.83[ASN][1000 genomes]
rs9314092	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9314093	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9314095	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9885329	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv830405	chr5:93086825-93258518	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033466	chr5:93201089-93250608	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1028893	chr5:93213264-93276883	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1020849	chr5:93228065-93279216	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1030870	chr5:93242611-93282996	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93213000-93256400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:93230600-93250800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:93246200-93250000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:93246600-93249400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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