Variant report

Variant	rs670919
Chromosome Location	chr11:57023345-57023346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12574780	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576471	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785770	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787728	0.86[AMR][1000 genomes]
rs12788046	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12789789	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797375	0.86[AMR][1000 genomes]
rs12799582	0.86[AMR][1000 genomes]
rs12800196	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801000	0.86[AMR][1000 genomes]
rs12802096	0.86[AMR][1000 genomes]
rs12803405	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804022	0.86[AMR][1000 genomes]
rs12806978	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12807593	0.86[AMR][1000 genomes]
rs12808193	0.86[AMR][1000 genomes]
rs12808784	0.86[AMR][1000 genomes]
rs17651573	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2508769	0.87[AFR][1000 genomes]
rs2508771	0.91[AFR][1000 genomes]
rs2511025	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2846040	0.91[AFR][1000 genomes]
rs2846043	0.87[AFR][1000 genomes]
rs2846045	0.83[AFR][1000 genomes]
rs2846046	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2846047	0.91[AFR][1000 genomes]
rs2846048	0.91[AFR][1000 genomes]
rs2851723	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851724	0.91[AFR][1000 genomes]
rs34069781	0.86[AMR][1000 genomes]
rs34076116	0.86[AMR][1000 genomes]
rs34085089	0.86[AMR][1000 genomes]
rs34177110	0.86[AMR][1000 genomes]
rs34498883	0.86[AMR][1000 genomes]
rs34505638	0.86[AMR][1000 genomes]
rs34544917	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34704777	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34742309	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34769912	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34850337	0.86[AMR][1000 genomes]
rs35272228	0.86[AMR][1000 genomes]
rs35388927	0.86[AMR][1000 genomes]
rs35536636	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35721601	0.86[AMR][1000 genomes]
rs35950335	0.86[AMR][1000 genomes]
rs35980006	0.86[AMR][1000 genomes]
rs35991636	0.86[AMR][1000 genomes]
rs36090449	0.86[AMR][1000 genomes]
rs499885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546403	0.91[AFR][1000 genomes]
rs558266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559168	0.87[AFR][1000 genomes]
rs578831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639248	0.91[AFR][1000 genomes]
rs652353	0.87[AFR][1000 genomes]
rs655402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484428	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484429	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484430	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484432	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484433	0.86[AMR][1000 genomes]
rs71484434	0.86[AMR][1000 genomes]
rs71484435	0.86[AMR][1000 genomes]
rs71484436	0.86[AMR][1000 genomes]
rs71484437	0.86[AMR][1000 genomes]
rs71484440	0.86[AMR][1000 genomes]
rs71484441	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57017200-57026000	Weak transcription	Fetal Brain Male	brain
2	chr11:57018200-57028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:57021000-57023400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:57021400-57023400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:57021600-57023800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:57022000-57023600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:57022400-57023600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:57022600-57023400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:57022600-57023600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:57022600-57023600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:57022600-57023600	Enhancers	NHEK	skin
12	chr11:57022800-57023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:57022800-57023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:57022800-57023600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:57022800-57023600	Enhancers	HMEC	breast
16	chr11:57023000-57023600	Enhancers	NH-A	brain
17	chr11:57023200-57023600	Enhancers	HSMMtube	muscle

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