Variant report

Variant	rs62319493
Chromosome Location	chr4:125099432-125099433
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	chr4:125096576..125099457-chr4:125126829..125129518,2	MCF-7	breast:

Extended variants
information (count: 236 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:228)

rs_ID	r²[population]
rs1078357	0.93[AMR][1000 genomes]
rs1078358	0.93[AMR][1000 genomes]
rs1078359	0.86[AMR][1000 genomes]
rs11098738	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098740	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1159231	0.93[AMR][1000 genomes];1.00[EUR][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]
rs12647782	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12648295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12648465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12648774	0.96[ASN][1000 genomes]
rs1403716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1438757	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1520323	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17007972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1915128	0.86[AMR][1000 genomes]
rs2005185	0.93[AMR][1000 genomes]
rs2118742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2118743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2125001	0.93[AMR][1000 genomes]
rs2893075	0.86[AMR][1000 genomes]
rs34300106	0.93[AMR][1000 genomes]
rs35516575	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3915056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3915057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4292346	0.93[AMR][1000 genomes]
rs4413420	0.86[AMR][1000 genomes]
rs58598675	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58704645	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62319361	0.86[AMR][1000 genomes]
rs62319406	0.86[AMR][1000 genomes]
rs62319490	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319491	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319492	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62319494	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319495	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319496	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62319499	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62319500	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62319501	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319502	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319503	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319504	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319506	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319507	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62319508	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62319509	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319510	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319511	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319512	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319513	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319514	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319515	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62319516	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319517	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319518	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319519	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62319520	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320016	0.82[EUR][1000 genomes]
rs62320018	0.82[EUR][1000 genomes]
rs62320025	0.82[EUR][1000 genomes]
rs62320038	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62320039	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62320040	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62320057	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62320058	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62320059	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62320368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320369	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320371	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320372	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320373	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320374	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320375	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320376	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320387	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320450	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320455	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320456	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320458	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320869	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62320870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320875	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320892	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320896	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62320897	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62320898	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62320899	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320900	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62320901	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320902	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62320903	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62320904	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320905	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320906	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320907	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62320908	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320909	1.00[AMR][1000 genomes]
rs62320910	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320911	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320912	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62320940	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320945	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320946	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320947	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320948	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320949	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320950	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62320951	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320952	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320953	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62320954	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62321960	0.93[AMR][1000 genomes]
rs62321961	0.93[AMR][1000 genomes]
rs62321962	0.93[AMR][1000 genomes]
rs62321964	0.93[AMR][1000 genomes]
rs62321965	0.93[AMR][1000 genomes]
rs62321967	0.93[AMR][1000 genomes]
rs62321968	0.93[AMR][1000 genomes]
rs62321969	0.93[AMR][1000 genomes]
rs62321971	0.93[AMR][1000 genomes]
rs62321973	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	0.93[AMR][1000 genomes]
rs62322017	0.93[AMR][1000 genomes]
rs62322024	0.86[AMR][1000 genomes]
rs62322025	0.86[AMR][1000 genomes]
rs62322062	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62322069	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62322071	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62322072	0.84[EUR][1000 genomes]
rs62322073	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62322074	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62322075	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6819495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6829495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674723	0.82[EUR][1000 genomes]
rs72674731	0.82[EUR][1000 genomes]
rs72674736	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674737	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674738	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674756	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72674761	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674763	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674766	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674773	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674774	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72674778	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674780	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674782	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72674794	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72676607	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72676612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72676614	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72676622	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72676629	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72676630	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72676641	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72676643	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72676649	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]
rs731444	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7692785	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7692892	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7693805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7694231	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7694670	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7697307	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9790377	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9790382	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	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
3	nsv1014750	chr4:124966525-125111807	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000839	chr4:124966525-125115590	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125098200-125099600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:125098200-125099800	Enhancers	NHEK	skin
3	chr4:125098400-125100800	Enhancers	Hela-S3	cervix
4	chr4:125098600-125099800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:125098600-125100000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:125098600-125100200	Enhancers	HMEC	breast
7	chr4:125098600-125100400	Enhancers	NHLF	lung
8	chr4:125098600-125101000	Enhancers	NHDF-Ad	bronchial
9	chr4:125098600-125101200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:125098800-125099600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:125098800-125099800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:125098800-125099800	Enhancers	A549	lung
13	chr4:125098800-125100200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:125098800-125100200	Enhancers	Aorta	Aorta
15	chr4:125098800-125101000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:125098800-125101600	Enhancers	Esophagus	oesophagus
17	chr4:125099000-125101200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:125099400-125099600	Flanking Active TSS	NH-A	brain
19	chr4:125099400-125099800	Flanking Active TSS	Osteobl	bone
20	chr4:125099400-125100200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:125099400-125100600	Enhancers	Adipose Nuclei	Adipose
22	chr4:125099400-125101200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:125099400-125101600	Enhancers	HUVEC	blood vessel

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