Variant report

Variant	rs58317516
Chromosome Location	chr5:14992503-14992504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10044822	1.00[EUR][1000 genomes]
rs10044904	1.00[EUR][1000 genomes]
rs10044907	1.00[EUR][1000 genomes]
rs10044908	1.00[EUR][1000 genomes]
rs10513195	1.00[EUR][1000 genomes]
rs16903778	1.00[EUR][1000 genomes]
rs62356077	0.82[ASN][1000 genomes]
rs6859541	0.93[EUR][1000 genomes]
rs6864877	1.00[EUR][1000 genomes]
rs6877954	1.00[EUR][1000 genomes]
rs6878138	1.00[EUR][1000 genomes]
rs6878288	1.00[EUR][1000 genomes]
rs6878430	1.00[EUR][1000 genomes]
rs73053946	1.00[EUR][1000 genomes]
rs73053947	1.00[EUR][1000 genomes]
rs73053951	1.00[EUR][1000 genomes]
rs73053957	1.00[EUR][1000 genomes]
rs7341067	1.00[EUR][1000 genomes]
rs7341168	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv524142	chr5:14986700-15018537	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14985600-14992800	Weak transcription	Fetal Thymus	thymus
2	chr5:14985800-14992600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:14988600-14992800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:14989000-14992800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:14992400-14992600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:14992400-14992600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:14992400-14992600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:14992400-14992800	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:14992400-14992800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:14992400-14992800	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:14992400-14992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:14992400-14992800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr5:14992400-14992800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:14992400-14992800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:14992400-14992800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:14992400-14992800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:14992400-14993000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:14992400-14993000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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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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