Variant report

Variant	rs1718713
Chromosome Location	chr2:34098692-34098693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1510873	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1624635	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1705110	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1705114	0.80[EUR][1000 genomes]
rs1705136	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1705153	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1718712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460509	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2681709	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs773808	0.88[EUR][1000 genomes]
rs773809	0.86[EUR][1000 genomes]
rs773811	0.88[EUR][1000 genomes]
rs773814	0.82[EUR][1000 genomes]
rs773826	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs773829	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs773830	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873794	chr2:33936701-34103546	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1006001	chr2:33991364-34858721	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv535628	chr2:33991364-34858721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv873797	chr2:33996983-34128002	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873798	chr2:33996983-34410240	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873799	chr2:33996983-34821990	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv873801	chr2:34005793-34103546	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1005015	chr2:34011580-34153489	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv873802	chr2:34028455-34114843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv581332	chr2:34043852-34175977	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv581333	chr2:34046245-34164186	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv456152	chr2:34046245-34167731	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv470449	chr2:34046245-34187256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv456163	chr2:34061344-34163414	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv581335	chr2:34061344-34163414	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1001009	chr2:34098224-34123196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
17	esv2760596	chr2:34098224-34124115	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
18	nsv1000496	chr2:34098224-34124115	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
19	nsv1006334	chr2:34098224-34127078	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
20	nsv528832	chr2:34098507-34128002	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
21	nsv1007988	chr2:34098692-34124115	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
22	nsv1000350	chr2:34098692-34127627	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1718713	CAPN13	cis	parietal	SCAN
rs1718713	UBR1	trans	parietal	SCAN
rs1718713	STRN	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34097800-34098800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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