Variant report

Variant	rs2977003
Chromosome Location	chr8:52287041-52287042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10091279	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs10096044	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10101803	0.85[YRI][hapmap]
rs10104348	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1017352	1.00[CHB][hapmap]
rs1017353	1.00[CHB][hapmap];0.83[MKK][hapmap];0.81[YRI][hapmap]
rs1017354	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs10958261	1.00[CHB][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs1219677	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs1219680	0.91[ASW][hapmap];1.00[CHB][hapmap];0.87[LWK][hapmap];0.85[YRI][hapmap]
rs1236097	1.00[CHB][hapmap]
rs12550267	1.00[CHB][hapmap];0.82[AFR][1000 genomes]
rs12550699	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13282560	0.83[AMR][1000 genomes]
rs1346954	1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs1367820	1.00[CEU][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1431619	1.00[CHB][hapmap]
rs1431620	1.00[CHB][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs1431624	1.00[CHB][hapmap]
rs1431625	1.00[CHB][hapmap]
rs1431626	1.00[CHB][hapmap]
rs1431627	1.00[CHB][hapmap]
rs1431628	1.00[CHB][hapmap]
rs1560508	1.00[CHB][hapmap]
rs1560509	1.00[CHB][hapmap]
rs1560510	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs1560511	0.83[AMR][1000 genomes]
rs1811360	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1975113	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1991691	1.00[CHB][hapmap]
rs1991692	1.00[CHB][hapmap]
rs2082279	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2915454	1.00[CHB][hapmap]
rs2915457	1.00[CHB][hapmap]
rs2915459	0.81[AFR][1000 genomes]
rs2915460	1.00[CHB][hapmap]
rs2915461	1.00[CHB][hapmap]
rs2915465	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2915467	1.00[CHB][hapmap]
rs2915468	1.00[CHB][hapmap]
rs2915469	1.00[CHB][hapmap]
rs2915471	1.00[CHB][hapmap]
rs2915473	1.00[CHB][hapmap]
rs2915475	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2915476	1.00[CHB][hapmap]
rs2915477	1.00[CHB][hapmap]
rs2915479	1.00[CHB][hapmap]
rs2915480	1.00[CHB][hapmap]
rs2915481	1.00[CHB][hapmap]
rs2915482	1.00[CHB][hapmap]
rs2915483	1.00[CHB][hapmap]
rs2915485	1.00[CHB][hapmap]
rs2915487	0.93[AFR][1000 genomes]
rs2915488	0.93[AFR][1000 genomes]
rs2915489	0.81[ASW][hapmap];0.87[GIH][hapmap];0.89[YRI][hapmap]
rs2915492	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2915493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2915495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915504	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2976984	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2976985	1.00[CHB][hapmap]
rs2976986	1.00[CHB][hapmap]
rs2976988	1.00[CHB][hapmap]
rs2976989	1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs2976990	1.00[CHB][hapmap]
rs2976992	1.00[CHB][hapmap]
rs2976993	1.00[CHB][hapmap]
rs2976994	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.85[YRI][hapmap]
rs2976998	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2976999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2977000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2977001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2977002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2977004	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2977005	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2977008	0.91[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2977010	0.91[ASW][hapmap];0.82[CEU][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2977012	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2977015	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2977020	0.93[CEU][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3097700	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097701	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3097702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097703	1.00[CHB][hapmap]
rs3097704	1.00[CHB][hapmap]
rs3097705	1.00[CHB][hapmap]
rs3097706	1.00[CHB][hapmap]
rs3115784	1.00[CHB][hapmap]
rs4471026	0.82[AFR][1000 genomes]
rs4873548	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60579236	0.85[AFR][1000 genomes]
rs67110071	0.81[AFR][1000 genomes]
rs6996951	0.85[YRI][hapmap]
rs7003720	0.80[AFR][1000 genomes]
rs7004184	0.83[AMR][1000 genomes]
rs7016775	1.00[CHB][hapmap]
rs766788	0.85[YRI][hapmap]
rs766790	0.85[YRI][hapmap]
rs9298444	0.91[ASW][hapmap];0.85[LWK][hapmap];0.85[YRI][hapmap]
rs961353	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972025	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap]
rs972026	1.00[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.92[LWK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2977003	RB1CC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52283000-52289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:52283800-52287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:52284600-52294400	Weak transcription	Right Ventricle	heart
4	chr8:52284600-52296000	Weak transcription	Left Ventricle	heart
5	chr8:52287000-52290000	Weak transcription	H1 Cell Line	embryonic stem cell

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