Variant report

Variant	rs62321969
Chromosome Location	chr4:125260470-125260471
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	chr4:125258287..125261207-chr4:125262422..125264529,2	K562	blood:

Extended variants
information (count: 239 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:233)

rs_ID	r²[population]
rs1078357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078359	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11098740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1159231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12641347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12643266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12643717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12644360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12644739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12645137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12645203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12645206	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12645755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12648295	0.93[AMR][1000 genomes]
rs12648465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1379379	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1403716	0.93[AMR][1000 genomes]
rs1438757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1520323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17007972	0.93[AMR][1000 genomes]
rs1915128	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2005185	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118742	0.93[AMR][1000 genomes]
rs2118743	0.93[AMR][1000 genomes]
rs2125001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2893075	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34300106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35516575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3915056	0.93[AMR][1000 genomes]
rs3915057	0.93[AMR][1000 genomes]
rs4292346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4413420	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs572951	0.93[ASN][1000 genomes]
rs62319361	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62319362	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62319406	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62319410	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62319411	0.86[AMR][1000 genomes]
rs62319490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319493	0.93[AMR][1000 genomes]
rs62319494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319498	0.92[AMR][1000 genomes]
rs62319499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319507	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62319508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319513	1.00[AMR][1000 genomes]
rs62319514	1.00[AMR][1000 genomes]
rs62319515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62319520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320038	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62320040	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62320057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320058	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62320059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320456	1.00[AMR][1000 genomes]
rs62320458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320459	0.93[AMR][1000 genomes]
rs62320665	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320677	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320679	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62320680	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320685	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320686	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320687	0.93[AMR][1000 genomes]
rs62320689	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320691	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320860	0.93[AMR][1000 genomes]
rs62320861	0.93[AMR][1000 genomes]
rs62320862	0.93[AMR][1000 genomes]
rs62320863	0.93[AMR][1000 genomes]
rs62320865	0.93[AMR][1000 genomes]
rs62320869	0.93[AMR][1000 genomes]
rs62320870	0.93[AMR][1000 genomes]
rs62320871	0.93[AMR][1000 genomes]
rs62320872	0.93[AMR][1000 genomes]
rs62320873	0.93[AMR][1000 genomes]
rs62320874	0.93[AMR][1000 genomes]
rs62320875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320876	0.93[AMR][1000 genomes]
rs62320877	0.93[AMR][1000 genomes]
rs62320878	0.93[AMR][1000 genomes]
rs62320885	0.93[AMR][1000 genomes]
rs62320890	0.93[AMR][1000 genomes]
rs62320891	0.93[AMR][1000 genomes]
rs62320892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320894	0.93[AMR][1000 genomes]
rs62320895	0.93[AMR][1000 genomes]
rs62320896	0.93[AMR][1000 genomes]
rs62320897	0.93[AMR][1000 genomes]
rs62320898	0.93[AMR][1000 genomes]
rs62320899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320900	0.93[AMR][1000 genomes]
rs62320901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320902	0.93[AMR][1000 genomes]
rs62320903	0.93[AMR][1000 genomes]
rs62320904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62320907	0.93[AMR][1000 genomes]
rs62320908	0.93[AMR][1000 genomes]
rs62320909	0.93[AMR][1000 genomes]
rs62320910	0.93[AMR][1000 genomes]
rs62320911	0.93[AMR][1000 genomes]
rs62320912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62320940	0.93[AMR][1000 genomes]
rs62320945	0.93[AMR][1000 genomes]
rs62320946	0.93[AMR][1000 genomes]
rs62320947	0.93[AMR][1000 genomes]
rs62320948	0.93[AMR][1000 genomes]
rs62320949	0.93[AMR][1000 genomes]
rs62320950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62320951	0.93[AMR][1000 genomes]
rs62320952	0.93[AMR][1000 genomes]
rs62320953	0.93[AMR][1000 genomes]
rs62320954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62321960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321966	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62321970	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62321971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62321973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62321974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62321999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322014	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322024	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322025	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62322062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62322069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62322071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62322073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62322074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62322075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6819495	0.93[AMR][1000 genomes]
rs6829495	0.93[AMR][1000 genomes]
rs6834583	0.93[AMR][1000 genomes]
rs6845822	0.93[AMR][1000 genomes]
rs72674756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72674794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72676607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72676612	0.93[AMR][1000 genomes]
rs72676614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72676622	0.93[AMR][1000 genomes]
rs72676629	0.93[AMR][1000 genomes]
rs72676630	0.93[AMR][1000 genomes]
rs72676641	0.93[AMR][1000 genomes]
rs72676643	0.93[AMR][1000 genomes]
rs72676649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72676655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72676660	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72676661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72676665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72676667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72676668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72676669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72676671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72676672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72678434	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72678451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72678473	0.81[AMR][1000 genomes]
rs7692785	0.93[AMR][1000 genomes]
rs7692892	0.93[AMR][1000 genomes]
rs7693805	0.93[AMR][1000 genomes]
rs7694231	1.00[AMR][1000 genomes]
rs7694670	0.93[AMR][1000 genomes]
rs7697307	0.93[AMR][1000 genomes]
rs9790377	0.93[AMR][1000 genomes]
rs9790382	0.93[AMR][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	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125255800-125264400	Weak transcription	NHDF-Ad	bronchial
2	chr4:125260400-125272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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