Variant report

Variant	rs9939553
Chromosome Location	chr16:76370838-76370839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1035531	0.93[ASN][1000 genomes]
rs1035532	0.93[ASN][1000 genomes]
rs11865494	0.89[EUR][1000 genomes]
rs12325022	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12595966	0.95[EUR][1000 genomes]
rs12596487	0.98[EUR][1000 genomes]
rs12596963	0.98[EUR][1000 genomes]
rs12597605	0.98[EUR][1000 genomes]
rs12597720	0.98[EUR][1000 genomes]
rs12600063	0.98[EUR][1000 genomes]
rs1346554	0.98[EUR][1000 genomes]
rs1346555	0.98[EUR][1000 genomes]
rs1346556	0.98[EUR][1000 genomes]
rs1549660	0.86[ASN][1000 genomes]
rs1549661	0.93[ASN][1000 genomes]
rs1559329	0.93[ASN][1000 genomes]
rs16944222	0.98[EUR][1000 genomes]
rs16944225	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16944228	0.89[ASN][1000 genomes]
rs17699107	0.98[EUR][1000 genomes]
rs17699131	0.98[EUR][1000 genomes]
rs17699142	0.98[EUR][1000 genomes]
rs17699214	0.93[EUR][1000 genomes]
rs17699220	0.93[EUR][1000 genomes]
rs17699232	0.91[EUR][1000 genomes]
rs17766584	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17766704	0.98[EUR][1000 genomes]
rs17766740	0.98[EUR][1000 genomes]
rs17766856	0.91[EUR][1000 genomes]
rs17766862	0.93[EUR][1000 genomes]
rs17766904	0.89[EUR][1000 genomes]
rs1964297	0.93[ASN][1000 genomes]
rs2195428	0.98[EUR][1000 genomes]
rs2195429	0.97[EUR][1000 genomes]
rs28417722	0.92[EUR][1000 genomes]
rs2866713	0.95[EUR][1000 genomes]
rs2866714	0.95[EUR][1000 genomes]
rs34500194	0.94[EUR][1000 genomes]
rs4448976	0.98[EUR][1000 genomes]
rs4528602	0.97[EUR][1000 genomes]
rs4595825	0.98[EUR][1000 genomes]
rs58234937	0.98[EUR][1000 genomes]
rs58799953	0.90[ASN][1000 genomes]
rs59708157	0.98[EUR][1000 genomes]
rs61245681	0.98[EUR][1000 genomes]
rs66508951	0.95[EUR][1000 genomes]
rs7193350	0.90[EUR][1000 genomes]
rs7204781	0.91[ASN][1000 genomes]
rs72626199	1.00[EUR][1000 genomes]
rs72628208	0.98[EUR][1000 genomes]
rs72628209	0.98[EUR][1000 genomes]
rs72628210	0.98[EUR][1000 genomes]
rs72628211	0.98[EUR][1000 genomes]
rs72628212	0.93[EUR][1000 genomes]
rs72628213	0.93[EUR][1000 genomes]
rs72628214	0.91[EUR][1000 genomes]
rs72628215	0.91[EUR][1000 genomes]
rs72628216	0.93[EUR][1000 genomes]
rs7501035	0.98[EUR][1000 genomes]
rs8043911	0.93[EUR][1000 genomes]
rs8044400	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8044637	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8045505	0.98[EUR][1000 genomes]
rs8045699	0.98[EUR][1000 genomes]
rs8045862	0.98[EUR][1000 genomes]
rs8046953	0.87[ASN][1000 genomes]
rs8047690	0.98[EUR][1000 genomes]
rs8049390	0.90[ASN][1000 genomes]
rs8058722	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8059413	0.93[EUR][1000 genomes]
rs8062657	0.93[EUR][1000 genomes]
rs8062793	0.91[EUR][1000 genomes]
rs8063803	0.92[EUR][1000 genomes]
rs9921874	0.99[EUR][1000 genomes]
rs9924992	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1065794	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv542961	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1059162	chr16:75929348-76730816	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv572995	chr16:75935025-76708417	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv572996	chr16:75935025-76735249	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv817220	chr16:75939705-76735383	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1056021	chr16:75955522-76729765	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv542962	chr16:75955522-76729765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv906935	chr16:76031737-76453110	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv906936	chr16:76031737-76768178	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv817549	chr16:76067068-76582099	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1065644	chr16:76166579-76475634	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv869200	chr16:76227867-76695732	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv833286	chr16:76243730-76444283	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv2763142	chr16:76271660-76461841	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr16:76369800-76372200	Weak transcription	Brain Angular Gyrus	brain
2	chr16:76369800-76376800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:76370000-76371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:76370000-76378800	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:76370000-76378800	Weak transcription	Brain Substantia Nigra	brain
6	chr16:76370000-76379000	Weak transcription	Brain Anterior Caudate	brain
7	chr16:76370200-76371400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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