Variant report

Variant	rs995192
Chromosome Location	chr5:5067181-5067182
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5061556..5063632-chr5:5065952..5067760,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS16-1	chr5:5067016-5067442	XLOC_004269
2	lnc-ADAMTS16-1	chr5:5067016-5067217	XLOC_004269
3	lnc-ADAMTS16-1	chr5:5067016-5067217	XLOC_004269
4	lnc-ADAMTS16-1	chr5:5067016-5067217	XLOC_004269
5	lnc-ADAMTS16-1	chr5:5067016-5067217	ENSG00000215231
6	lnc-ADAMTS16-1	chr5:5067016-5067217	NONHSAT100155
7	lnc-ADAMTS16-1	chr5:5067016-5067839	NONHSAT100152

No data

No data

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10041066	0.91[AMR][1000 genomes]
rs1319764	0.91[AMR][1000 genomes]
rs13435958	0.91[AMR][1000 genomes]
rs13436478	0.91[AMR][1000 genomes]
rs16874655	0.91[AMR][1000 genomes]
rs16874657	0.91[AMR][1000 genomes]
rs16874683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2134146	0.91[AMR][1000 genomes]
rs2399752	1.00[AMR][1000 genomes]
rs58552613	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58567957	0.81[AMR][1000 genomes]
rs59511253	0.91[AMR][1000 genomes]
rs61119570	1.00[AMR][1000 genomes]
rs9313096	0.91[AMR][1000 genomes]
rs9313097	0.91[AMR][1000 genomes]
rs9313098	0.91[AMR][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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5066000-5067200	Enhancers	NHEK	skin
2	chr5:5066000-5067600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:5066000-5067600	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:5066200-5067200	Enhancers	Ovary	ovary
5	chr5:5066400-5067200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:5066400-5067200	Enhancers	NH-A	brain
7	chr5:5066800-5067200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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