Variant report

Variant	rs8008719
Chromosome Location	chr14:46607899-46607900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12882008	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36190435	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66897914	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901847	chr14:45797782-46607899	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv564730	chr14:46122141-46729024	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv516946	chr14:46361884-46653871	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761344	chr14:46428083-46698317	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv901858	chr14:46435899-46653871	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv470643	chr14:46458696-46624379	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1036267	chr14:46491828-46804734	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv901859	chr14:46504122-46698056	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv470644	chr14:46504122-46799990	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1042746	chr14:46527381-46781893	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1050269	chr14:46527381-46936207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv456288	chr14:46531972-46799990	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv564736	chr14:46531972-46799990	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv456289	chr14:46552854-46672635	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv564737	chr14:46552854-46672635	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1041373	chr14:46562320-46618618	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	nsv456290	chr14:46586783-46659474	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv564738	chr14:46586783-46659474	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
19	nsv1036719	chr14:46588181-46873231	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	esv3486867	chr14:46600402-46610100	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
21	esv3486868	chr14:46600952-46609950	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
22	esv3530604	chr14:46601456-46609105	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
23	esv3530605	chr14:46601456-46609105	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
24	esv3486871	chr14:46601631-46609017	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
25	esv3486870	chr14:46601634-46608981	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
26	esv3486869	chr14:46601662-46608986	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
27	esv3486872	chr14:46601715-46608931	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
28	esv3486873	chr14:46601715-46608931	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
29	esv3693165	chr14:46602092-46608074	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv817631	chr14:46602092-46608074	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
31	esv2421435	chr14:46602092-46608975	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
32	esv2763070	chr14:46603787-46608975	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8008719	LRFN5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46607400-46609000	Weak transcription	HUVEC	blood vessel

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