Variant report

Variant	rs1975113
Chromosome Location	chr8:52274570-52274571
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1017351	0.81[ASN][1000 genomes]
rs1017352	0.83[ASN][1000 genomes]
rs1017353	0.83[ASN][1000 genomes]
rs1017354	0.83[ASN][1000 genomes]
rs1219677	0.81[ASN][1000 genomes]
rs1219680	0.81[ASN][1000 genomes]
rs1236097	0.81[ASN][1000 genomes]
rs12550699	0.93[EUR][1000 genomes]
rs1346954	0.90[ASN][1000 genomes]
rs1367817	0.83[ASN][1000 genomes]
rs1367820	0.85[EUR][1000 genomes]
rs1431619	0.83[ASN][1000 genomes]
rs1431620	0.83[ASN][1000 genomes]
rs1431621	0.88[ASN][1000 genomes]
rs1431622	0.88[ASN][1000 genomes]
rs1431623	0.90[ASN][1000 genomes]
rs1431624	0.90[ASN][1000 genomes]
rs1431625	0.90[ASN][1000 genomes]
rs1431626	0.90[ASN][1000 genomes]
rs1431627	0.90[ASN][1000 genomes]
rs1473240	0.83[ASN][1000 genomes]
rs1560508	0.90[ASN][1000 genomes]
rs1560509	0.90[ASN][1000 genomes]
rs1560510	0.90[ASN][1000 genomes]
rs1583197	0.90[ASN][1000 genomes]
rs17261657	0.88[ASN][1000 genomes]
rs1811360	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991691	0.90[ASN][1000 genomes]
rs1991692	0.90[ASN][1000 genomes]
rs1991693	0.90[ASN][1000 genomes]
rs2082279	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2915454	0.83[ASN][1000 genomes]
rs2915456	0.83[ASN][1000 genomes]
rs2915457	0.83[ASN][1000 genomes]
rs2915460	0.83[ASN][1000 genomes]
rs2915461	0.83[ASN][1000 genomes]
rs2915462	0.83[ASN][1000 genomes]
rs2915465	0.86[ASN][1000 genomes]
rs2915467	0.90[ASN][1000 genomes]
rs2915468	0.90[ASN][1000 genomes]
rs2915469	0.90[ASN][1000 genomes]
rs2915470	0.90[ASN][1000 genomes]
rs2915471	0.90[ASN][1000 genomes]
rs2915472	0.90[ASN][1000 genomes]
rs2915473	0.90[ASN][1000 genomes]
rs2915475	0.90[ASN][1000 genomes]
rs2915476	0.90[ASN][1000 genomes]
rs2915477	0.90[ASN][1000 genomes]
rs2915478	0.90[ASN][1000 genomes]
rs2915480	0.90[ASN][1000 genomes]
rs2915481	0.90[ASN][1000 genomes]
rs2915482	0.90[ASN][1000 genomes]
rs2915483	0.90[ASN][1000 genomes]
rs2915484	0.90[ASN][1000 genomes]
rs2915486	0.90[ASN][1000 genomes]
rs2915487	0.95[ASN][1000 genomes]
rs2915488	0.95[ASN][1000 genomes]
rs2915492	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915493	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915495	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2915502	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2915504	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2915505	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2976983	0.83[ASN][1000 genomes]
rs2976984	0.88[ASN][1000 genomes]
rs2976985	0.86[ASN][1000 genomes]
rs2976986	0.90[ASN][1000 genomes]
rs2976988	0.90[ASN][1000 genomes]
rs2976989	0.90[ASN][1000 genomes]
rs2976990	0.90[ASN][1000 genomes]
rs2976991	0.90[ASN][1000 genomes]
rs2976992	0.90[ASN][1000 genomes]
rs2976993	0.90[ASN][1000 genomes]
rs2976994	0.90[ASN][1000 genomes]
rs2976998	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2976999	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2977000	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2977001	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2977002	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2977003	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2977004	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2977005	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2977008	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2977012	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2977015	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2977020	0.82[EUR][1000 genomes]
rs3097700	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3097701	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3097702	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3097703	0.90[ASN][1000 genomes]
rs3097704	0.90[ASN][1000 genomes]
rs3097705	0.83[ASN][1000 genomes]
rs3097706	0.81[ASN][1000 genomes]
rs3115784	0.90[ASN][1000 genomes]
rs4873548	0.85[EUR][1000 genomes]
rs961353	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs969257	0.88[ASN][1000 genomes]
rs972026	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3421142	chr8:52270899-52275097	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52262200-52275600	Weak transcription	Right Atrium	heart
2	chr8:52264200-52284200	Weak transcription	Right Ventricle	heart
3	chr8:52270000-52275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:52271600-52276200	Weak transcription	Aorta	Aorta
5	chr8:52271800-52284200	Weak transcription	Left Ventricle	heart

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