Variant report

Variant	rs12516311
Chromosome Location	chr5:119385747-119385748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10063346	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10463470	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954149	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513455	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12515188	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517820	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12518548	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12521462	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12522934	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12719270	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12719271	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13163408	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13179661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348476	0.83[EUR][1000 genomes]
rs1443976	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1443977	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1811296	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1811298	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1907200	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1907201	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1907202	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1907203	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1948324	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1948325	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs36024865	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4080163	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4410670	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4526135	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4643984	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4645354	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4895139	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895140	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895141	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895142	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895222	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895224	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4895225	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895226	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4895227	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4895228	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895229	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4895230	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4895231	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5002560	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs5002562	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs5002563	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs5002564	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62377418	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62377419	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6595205	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6865527	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6865534	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6865540	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6866001	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6877784	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6883773	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6886798	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6887845	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6888189	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7711144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180470	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs918468	0.80[AFR][1000 genomes];0.85[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	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv599568	chr5:119199265-119414589	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1023146	chr5:119301891-119623417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537883	chr5:119301891-119623417	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3331559	chr5:119306944-119536554	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv882780	chr5:119332670-119488924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv1827579	chr5:119356669-119435037	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv1827829	chr5:119356669-119435037	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv1846556	chr5:119356669-119435037	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv1849212	chr5:119356669-119435037	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv882781	chr5:119369334-119557828	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3496321	chr5:119378703-119386251	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
15	esv3496320	chr5:119378853-119385901	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
16	esv3496322	chr5:119378853-119385901	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
17	nsv820208	chr5:119378986-119387654	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
18	esv2612831	chr5:119380506-119386460	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
19	nsv599578	chr5:119380512-119393520	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
20	esv1834575	chr5:119380512-119434193	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv599579	chr5:119380512-119445061	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv823196	chr5:119380620-119386690	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12516311	ZNF474	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119385600-119385800	ZNF genes & repeats	Fetal Brain Male	brain

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