Variant report

Variant	rs185947
Chromosome Location	chr13:69238932-69238933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs169614	0.87[ASN][1000 genomes]
rs2442999	0.96[ASN][1000 genomes]
rs287372	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs287417	0.97[ASN][1000 genomes]
rs287420	0.97[ASN][1000 genomes]
rs287421	0.96[ASN][1000 genomes]
rs287422	0.95[ASN][1000 genomes]
rs287425	0.96[ASN][1000 genomes]
rs287427	0.96[ASN][1000 genomes]
rs287432	0.96[ASN][1000 genomes]
rs287434	0.96[ASN][1000 genomes]
rs287436	0.96[ASN][1000 genomes]
rs287438	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs287478	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs287482	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs287483	0.87[EUR][1000 genomes]
rs419282	0.81[YRI][hapmap]
rs449684	0.96[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	nsv900440	chr13:69171580-69282276	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv900441	chr13:69218290-69272157	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv900442	chr13:69223307-69387266	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv900443	chr13:69226649-69249927	Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv471144	chr13:69230857-69261811	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv9085	chr13:69233592-69244129	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv900444	chr13:69233599-69380036	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1043903	chr13:69234019-69268230	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1078	chr13:69234473-69287002	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1051459	chr13:69234903-69268230	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1047512	chr13:69235646-69268230	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv455937	chr13:69236635-69240945	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv562148	chr13:69236635-69240945	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv437167	chr13:69238288-69272157	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv562149	chr13:69238595-69263738	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1049303	chr13:69238676-69923558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv562150	chr13:69238845-69263738	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69238800-69239000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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