Variant report

Variant	rs987577
Chromosome Location	chr2:56751574-56751575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10165778	0.83[EUR][1000 genomes]
rs10189772	0.83[EUR][1000 genomes]
rs10190611	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1030333	0.86[ASN][1000 genomes]
rs1030334	0.86[ASN][1000 genomes]
rs11125633	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11685181	0.96[EUR][1000 genomes]
rs12471905	0.82[EUR][1000 genomes]
rs12475304	0.82[EUR][1000 genomes]
rs13388596	0.95[EUR][1000 genomes]
rs1978530	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2033015	0.86[ASN][1000 genomes]
rs2113863	0.80[EUR][1000 genomes]
rs2113864	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2162026	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2194798	0.85[EUR][1000 genomes]
rs4672123	0.80[EUR][1000 genomes]
rs6735514	0.95[EUR][1000 genomes]
rs6753780	0.88[ASN][1000 genomes]
rs7580218	0.81[EUR][1000 genomes]
rs987575	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs989730	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874172	chr2:56638856-56811749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2752438	chr2:56700945-56788111	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv874173	chr2:56702495-56761626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv874174	chr2:56702495-56761998	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv582049	chr2:56702495-56787100	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv582050	chr2:56702495-56854346	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2756921	chr2:56706672-56811290	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv582051	chr2:56706758-56902709	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv517645	chr2:56712426-56754479	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv582054	chr2:56712426-56754479	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1004996	chr2:56715861-56751574	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv9846	chr2:56719890-56751958	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv998102	chr2:56720874-56751574	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1004015	chr2:56720874-56759719	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1006619	chr2:56725492-56751574	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv582055	chr2:56727178-56756857	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv874175	chr2:56731966-56821883	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1004726	chr2:56734799-56751574	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv874176	chr2:56736097-56821883	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv874177	chr2:56739650-56821883	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv874178	chr2:56739650-56839139	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv35146	chr2:56741749-56811290	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv817973	chr2:56743435-56817927	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1005729	chr2:56750209-56778009	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv1005547	chr2:56751574-56887287	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs987577	EFEMP1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56748800-56752600	Enhancers	Fetal Heart	heart
2	chr2:56749600-56751800	Enhancers	HSMM	muscle
3	chr2:56750600-56758200	Weak transcription	Psoas Muscle	Psoas
4	chr2:56750800-56752000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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