Variant report

Variant	rs72678451
Chromosome Location	chr4:125330844-125330845
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125329863..125331625-chr4:125334293..125336446,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs1078357	0.93[AMR][1000 genomes]
rs1078358	0.93[AMR][1000 genomes]
rs1078359	0.86[AMR][1000 genomes]
rs12641347	0.93[AMR][1000 genomes]
rs12643266	0.93[AMR][1000 genomes]
rs12643717	0.93[AMR][1000 genomes]
rs12644360	0.93[AMR][1000 genomes]
rs12644739	0.93[AMR][1000 genomes]
rs12645137	0.93[AMR][1000 genomes]
rs12645203	0.93[AMR][1000 genomes]
rs12645206	0.86[AMR][1000 genomes]
rs12645755	0.93[AMR][1000 genomes]
rs12648295	0.86[AMR][1000 genomes]
rs1379379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1403716	0.86[AMR][1000 genomes]
rs1520323	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16997793	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007972	0.86[AMR][1000 genomes]
rs1915128	0.86[AMR][1000 genomes]
rs2005185	0.93[AMR][1000 genomes]
rs2118742	0.86[AMR][1000 genomes]
rs2118743	0.86[AMR][1000 genomes]
rs2125001	0.93[AMR][1000 genomes]
rs2893075	0.86[AMR][1000 genomes]
rs34300106	0.93[AMR][1000 genomes]
rs3915056	0.86[AMR][1000 genomes]
rs3915057	0.86[AMR][1000 genomes]
rs4292346	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4413420	0.86[AMR][1000 genomes]
rs62319361	0.86[AMR][1000 genomes]
rs62319406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62319410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62319411	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319414	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62320371	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320372	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320373	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320374	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320376	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320377	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320387	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320456	0.93[AMR][1000 genomes]
rs62320458	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320459	0.86[AMR][1000 genomes]
rs62320664	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62320665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62320677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62320679	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62320680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62320685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62320686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62320687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62320689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62320691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62320860	0.86[AMR][1000 genomes]
rs62320861	0.86[AMR][1000 genomes]
rs62320862	0.86[AMR][1000 genomes]
rs62320863	0.86[AMR][1000 genomes]
rs62320865	0.86[AMR][1000 genomes]
rs62320869	0.86[AMR][1000 genomes]
rs62320870	0.86[AMR][1000 genomes]
rs62320871	0.86[AMR][1000 genomes]
rs62320872	0.86[AMR][1000 genomes]
rs62320873	0.86[AMR][1000 genomes]
rs62320874	0.86[AMR][1000 genomes]
rs62320875	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320876	0.86[AMR][1000 genomes]
rs62320877	0.86[AMR][1000 genomes]
rs62320878	0.86[AMR][1000 genomes]
rs62320885	0.86[AMR][1000 genomes]
rs62320890	0.86[AMR][1000 genomes]
rs62320891	0.86[AMR][1000 genomes]
rs62320892	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320894	0.86[AMR][1000 genomes]
rs62320895	0.86[AMR][1000 genomes]
rs62320896	0.86[AMR][1000 genomes]
rs62320897	0.86[AMR][1000 genomes]
rs62320898	0.86[AMR][1000 genomes]
rs62320899	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320900	0.86[AMR][1000 genomes]
rs62320901	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320902	0.86[AMR][1000 genomes]
rs62320903	0.86[AMR][1000 genomes]
rs62320904	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320905	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320906	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320907	0.86[AMR][1000 genomes]
rs62320908	0.86[AMR][1000 genomes]
rs62320909	0.86[AMR][1000 genomes]
rs62320910	0.86[AMR][1000 genomes]
rs62320911	0.86[AMR][1000 genomes]
rs62320912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320940	0.86[AMR][1000 genomes]
rs62320945	0.86[AMR][1000 genomes]
rs62320946	0.86[AMR][1000 genomes]
rs62320947	0.86[AMR][1000 genomes]
rs62320948	0.86[AMR][1000 genomes]
rs62320949	0.86[AMR][1000 genomes]
rs62320950	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62320951	0.86[AMR][1000 genomes]
rs62320952	0.86[AMR][1000 genomes]
rs62320953	0.86[AMR][1000 genomes]
rs62320954	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321960	0.93[AMR][1000 genomes]
rs62321961	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321962	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321964	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321965	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321967	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321968	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321969	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321971	0.93[AMR][1000 genomes]
rs62321973	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62321974	0.93[AMR][1000 genomes]
rs62321999	0.93[AMR][1000 genomes]
rs62322000	0.93[AMR][1000 genomes]
rs62322001	0.93[AMR][1000 genomes]
rs62322002	0.93[AMR][1000 genomes]
rs62322003	0.93[AMR][1000 genomes]
rs62322004	0.93[AMR][1000 genomes]
rs62322006	0.93[AMR][1000 genomes]
rs62322007	0.93[AMR][1000 genomes]
rs62322008	0.93[AMR][1000 genomes]
rs62322009	0.93[AMR][1000 genomes]
rs62322010	0.93[AMR][1000 genomes]
rs62322011	0.93[AMR][1000 genomes]
rs62322012	0.93[AMR][1000 genomes]
rs62322013	0.93[AMR][1000 genomes]
rs62322014	0.93[AMR][1000 genomes]
rs62322015	0.93[AMR][1000 genomes]
rs62322016	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62322017	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs62322024	0.86[AMR][1000 genomes]
rs62322025	0.86[AMR][1000 genomes]
rs6819495	0.86[AMR][1000 genomes]
rs6829495	0.86[AMR][1000 genomes]
rs6834583	0.86[AMR][1000 genomes]
rs6845822	0.86[AMR][1000 genomes]
rs72674780	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72674782	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72674794	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72676607	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72676612	0.86[AMR][1000 genomes]
rs72676614	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72676622	0.86[AMR][1000 genomes]
rs72676629	0.86[AMR][1000 genomes]
rs72676630	0.86[AMR][1000 genomes]
rs72676641	0.86[AMR][1000 genomes]
rs72676643	0.86[AMR][1000 genomes]
rs72676649	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72676653	0.93[AMR][1000 genomes]
rs72676654	0.93[AMR][1000 genomes]
rs72676655	0.93[AMR][1000 genomes]
rs72676660	0.86[AMR][1000 genomes]
rs72676661	0.93[AMR][1000 genomes]
rs72676665	0.93[AMR][1000 genomes]
rs72676667	0.93[AMR][1000 genomes]
rs72676668	0.93[AMR][1000 genomes]
rs72676669	0.93[AMR][1000 genomes]
rs72676671	0.93[AMR][1000 genomes]
rs72676672	0.93[AMR][1000 genomes]
rs72678434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678473	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692785	0.86[AMR][1000 genomes]
rs7692892	0.86[AMR][1000 genomes]
rs7693805	0.86[AMR][1000 genomes]
rs7694231	0.93[AMR][1000 genomes]
rs7694670	0.86[AMR][1000 genomes]
rs7697307	0.86[AMR][1000 genomes]
rs902930	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790377	0.86[AMR][1000 genomes]
rs9790382	0.86[AMR][1000 genomes]
rs9999775	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	nsv595380	chr4:125265313-125336932	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv4500	chr4:125291643-125337271	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125329600-125332000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:125330000-125331000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:125330000-125331800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:125330000-125331800	Enhancers	NHDF-Ad	bronchial
5	chr4:125330200-125331000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:125330200-125331200	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:125330400-125331400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:125330400-125334800	Weak transcription	Osteobl	bone
9	chr4:125330600-125331400	Weak transcription	A549	lung
10	chr4:125330600-125335000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:125330600-125335000	Weak transcription	NHLF	lung
12	chr4:125330600-125336200	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links