Variant report

Variant	rs12800319
Chromosome Location	chr11:56687263-56687264
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10501360	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228827	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228869	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228894	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271904	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278474	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293063	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417284	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417291	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418588	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419014	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419097	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419826	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420177	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420248	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420411	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420445	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12420673	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420832	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420925	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421627	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421707	1.00[CHB][hapmap]
rs12421860	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422121	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575183	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575372	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575387	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575912	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576168	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576184	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576855	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577285	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577345	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12785758	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786177	0.82[EUR][1000 genomes]
rs12786654	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787770	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788136	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788823	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12789248	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790228	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790623	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791343	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791691	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792425	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793368	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794495	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794899	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12795509	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797343	1.00[ASN][1000 genomes]
rs12797771	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798610	1.00[ASN][1000 genomes]
rs12799815	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800063	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801065	0.87[EUR][1000 genomes]
rs12801201	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801391	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801800	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12803027	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803779	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804100	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804298	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806510	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806959	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808034	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808890	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631138	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151364	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151369	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151375	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151560	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151564	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151571	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151596	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151610	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151619	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151623	0.84[EUR][1000 genomes]
rs17560574	1.00[ASN][1000 genomes]
rs1792479	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792523	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792524	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792525	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792526	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792527	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793423	1.00[CEU][hapmap]
rs1793425	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793429	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793430	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793436	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793441	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793445	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793459	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938754	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941050	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942607	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942608	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942609	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942616	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1942624	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942628	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1945575	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985204	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008410	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957177	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3017562	0.84[EUR][1000 genomes]
rs3017563	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34052386	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34175469	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34356177	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34371962	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463358	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34786579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35131429	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35358246	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614891	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35621347	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35775860	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35812761	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35823562	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894545	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35948979	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36092341	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114037	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412767	0.87[AMR][1000 genomes]
rs4480561	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576837	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4628689	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633488	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55817650	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55998005	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56008041	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102425	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103223	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113214	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117064	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117618	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128426	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130659	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130724	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs71460546	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482293	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482297	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482299	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484408	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484409	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484410	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484411	1.00[ASN][1000 genomes]
rs71495236	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730206	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744262	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7479689	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926761	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947850	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948722	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948723	0.87[EUR][1000 genomes];1.00[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	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv469960	chr11:56605222-56704042	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1045889	chr11:56624365-56737435	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv520375	chr11:56669830-56704042	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56685600-56690800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:56686400-56689200	Weak transcription	A549	lung

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