Variant report

Variant	rs12804134
Chromosome Location	chr11:58159912-58159913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10750894	0.86[ASN][1000 genomes]
rs10750895	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10750898	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10792159	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10792165	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896736	0.87[ASN][1000 genomes]
rs10896738	0.87[ASN][1000 genomes]
rs10896742	0.87[ASN][1000 genomes]
rs10896748	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896749	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896754	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896755	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896760	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896761	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896774	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10896775	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11229333	0.84[ASN][1000 genomes]
rs11229349	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11229352	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11229353	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229355	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229365	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229366	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229423	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11607488	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269745	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12274866	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12278357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283414	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12285111	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12286421	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12289198	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12290089	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12291551	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12294062	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12575804	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786744	1.00[ASN][1000 genomes]
rs12788786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789701	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797488	1.00[ASN][1000 genomes]
rs12798255	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802819	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12802960	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12803648	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17474373	0.97[ASN][1000 genomes]
rs1938637	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1938645	0.85[EUR][1000 genomes]
rs1938646	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938647	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938662	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938663	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938664	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1986404	0.97[ASN][1000 genomes]
rs2000486	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2003231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186407	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2226414	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35279927	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35542119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887001	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4085405	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4127345	0.84[ASN][1000 genomes]
rs4127346	0.87[ASN][1000 genomes]
rs4127348	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4127353	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4288769	0.87[ASN][1000 genomes]
rs4323891	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4347409	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4439529	0.87[ASN][1000 genomes]
rs4439530	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4506677	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4517537	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4519112	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4544018	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4561231	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4579945	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4611223	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4611224	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4938893	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6591469	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6591475	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7101864	0.80[ASN][1000 genomes]
rs7102222	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7102784	0.87[ASN][1000 genomes]
rs7104814	0.84[ASN][1000 genomes]
rs7110266	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7112318	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7112578	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7117244	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7127035	0.87[ASN][1000 genomes]
rs734776	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs754681	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926741	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931394	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7940521	0.80[AMR][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	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv517849	chr11:58129053-58264181	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1042491	chr11:58134936-58263639	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1037213	chr11:58142913-58178810	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	2 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	chr11:58155800-58160000	Weak transcription	HSMMtube	muscle
2	chr11:58156600-58162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:58158200-58162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:58158800-58162400	Enhancers	NHLF	lung
5	chr11:58159000-58162200	Enhancers	Osteobl	bone
6	chr11:58159000-58162400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:58159200-58160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:58159400-58162200	Enhancers	NHDF-Ad	bronchial
9	chr11:58159600-58162200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:58159600-58162400	Enhancers	HMEC	breast
11	chr11:58159800-58162800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:58159800-58163800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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