Variant report

Variant	rs8048367
Chromosome Location	chr16:48110683-48110684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48107011..48108589-chr16:48109218..48111502,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11861448	1.00[EUR][1000 genomes]
rs11864016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864570	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12103132	1.00[EUR][1000 genomes]
rs13330281	1.00[EUR][1000 genomes]
rs13330882	0.87[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331266	1.00[EUR][1000 genomes]
rs13333718	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334423	1.00[EUR][1000 genomes]
rs13334475	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335010	1.00[EUR][1000 genomes]
rs1345425	1.00[EUR][1000 genomes]
rs16945786	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16945813	1.00[EUR][1000 genomes]
rs16945816	1.00[EUR][1000 genomes]
rs16945819	1.00[EUR][1000 genomes]
rs16945824	1.00[EUR][1000 genomes]
rs16945828	1.00[EUR][1000 genomes]
rs16945831	1.00[EUR][1000 genomes]
rs16945835	1.00[EUR][1000 genomes]
rs16945839	1.00[EUR][1000 genomes]
rs16945860	1.00[EUR][1000 genomes]
rs2016940	1.00[EUR][1000 genomes]
rs28431782	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526661	1.00[EUR][1000 genomes]
rs28531369	1.00[EUR][1000 genomes]
rs28587611	1.00[EUR][1000 genomes]
rs28592871	1.00[EUR][1000 genomes]
rs28669266	1.00[EUR][1000 genomes]
rs34106426	1.00[EUR][1000 genomes]
rs4785405	1.00[EUR][1000 genomes]
rs56093600	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124014	1.00[EUR][1000 genomes]
rs57432729	1.00[EUR][1000 genomes]
rs57740199	1.00[EUR][1000 genomes]
rs58204235	1.00[EUR][1000 genomes]
rs58622309	1.00[EUR][1000 genomes]
rs59311846	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59312258	1.00[EUR][1000 genomes]
rs59466391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59528776	1.00[EUR][1000 genomes]
rs59766379	1.00[EUR][1000 genomes]
rs59832329	1.00[EUR][1000 genomes]
rs59966196	1.00[EUR][1000 genomes]
rs6500304	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6500305	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187069	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197701	1.00[EUR][1000 genomes]
rs7203314	1.00[EUR][1000 genomes]
rs73540833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73540845	1.00[EUR][1000 genomes]
rs73540853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018249	1.00[EUR][1000 genomes]
rs74018255	1.00[EUR][1000 genomes]
rs8046592	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8056411	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058288	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302750	1.00[EUR][1000 genomes]
rs939360	1.00[EUR][1000 genomes]
rs939362	1.00[EUR][1000 genomes]
rs961668	1.00[EUR][1000 genomes]
rs9925287	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926338	1.00[EUR][1000 genomes]
rs9933094	1.00[EUR][1000 genomes]
rs9933277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935027	1.00[EUR][1000 genomes]
rs9936500	1.00[EUR][1000 genomes]
rs9936532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938810	1.00[EUR][1000 genomes]
rs9940987	1.00[EUR][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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
2	esv2761906	chr16:48109727-48125855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48108800-48112200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr16:48109000-48110800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:48109000-48110800	Enhancers	NHDF-Ad	bronchial
4	chr16:48109000-48111200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:48109000-48112200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:48109200-48110800	Enhancers	NH-A	brain
7	chr16:48109200-48111000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:48109200-48111000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:48109400-48111000	Enhancers	HepG2	liver
10	chr16:48110200-48112200	Enhancers	Osteobl	bone
11	chr16:48110200-48115200	Weak transcription	HSMM	muscle
12	chr16:48110400-48114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:48110600-48110800	Enhancers	A549	lung
14	chr16:48110600-48110800	Enhancers	NHLF	lung

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