Variant report

Variant	rs716544
Chromosome Location	chr2:185241622-185241623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12464743	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1455888	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7349369	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998904	chr2:184955270-185318483	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1012174	chr2:184956114-185316664	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv583993	chr2:184995947-185316457	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1002838	chr2:185035277-185289130	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1011774	chr2:185100627-185289130	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv875494	chr2:185104115-185287387	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
7	nsv875496	chr2:185134237-185277167	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	esv2763031	chr2:185188572-185320059	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1007792	chr2:185199294-185283055	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
11	nsv875498	chr2:185210610-185326251	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
12	nsv818102	chr2:185210610-185339921	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
13	esv2756955	chr2:185210745-185370786	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
14	esv2759106	chr2:185210745-185370786	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
15	nsv875499	chr2:185212246-185280417	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
16	nsv875500	chr2:185212246-185284429	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
17	esv3459904	chr2:185214246-185346055	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
18	esv3459905	chr2:185214246-185346055	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
19	esv2755200	chr2:185224494-185277494	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
20	nsv584000	chr2:185238681-185282546	Enhancers	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
21	nsv875501	chr2:185238681-185284429	Enhancers	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
22	nsv437304	chr2:185239448-185264965	Enhancers	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
23	nsv1008164	chr2:185241535-185266713	Enhancers	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
24	nsv584001	chr2:185241622-185279320	Enhancers	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs716544	FSIP2	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links