Variant report

Variant	rs16969678
Chromosome Location	chr15:40006395-40006396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40002140..40004619-chr15:40006092..40009009,2	K562	blood:
2	chr15:40001984..40003640-chr15:40006092..40009077,2	K562	blood:
3	chr15:39984467..39987996-chr15:40003626..40006912,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10083552	1.00[ASN][1000 genomes]
rs10520145	0.86[ASN][1000 genomes]
rs10520146	0.86[ASN][1000 genomes]
rs10520148	0.86[ASN][1000 genomes]
rs1166719	1.00[AMR][1000 genomes]
rs1166720	1.00[AMR][1000 genomes]
rs1166726	1.00[AMR][1000 genomes]
rs16969484	1.00[ASN][1000 genomes]
rs16969537	1.00[AMR][1000 genomes]
rs16969547	0.86[ASN][1000 genomes]
rs16969573	1.00[ASN][1000 genomes]
rs16969600	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1994380	0.86[ASN][1000 genomes]
rs2129457	0.86[ASN][1000 genomes]
rs2638008	1.00[AMR][1000 genomes]
rs2638011	1.00[AMR][1000 genomes]
rs28735552	0.86[ASN][1000 genomes]
rs28785006	0.86[ASN][1000 genomes]
rs34878675	0.86[ASN][1000 genomes]
rs4085744	0.86[ASN][1000 genomes]
rs41376748	0.83[ASN][1000 genomes]
rs41515347	0.83[ASN][1000 genomes]
rs4291886	0.83[ASN][1000 genomes]
rs4322636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4503768	0.86[ASN][1000 genomes]
rs4641712	1.00[AMR][1000 genomes]
rs59146042	1.00[ASN][1000 genomes]
rs596717	1.00[AMR][1000 genomes]
rs60228643	0.86[ASN][1000 genomes]
rs61040173	0.83[ASN][1000 genomes]
rs612775	1.00[AMR][1000 genomes]
rs628076	1.00[AMR][1000 genomes]
rs639230	1.00[AMR][1000 genomes]
rs72727029	0.86[ASN][1000 genomes]
rs8036035	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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40001200-40011800	Weak transcription	NHDF-Ad	bronchial
2	chr15:40003600-40011200	Weak transcription	Osteobl	bone
3	chr15:40004800-40007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:40005800-40006400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:40006000-40007000	Enhancers	HSMMtube	muscle

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