Variant report

Variant	rs249564
Chromosome Location	chr5:104688954-104688955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10055275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.82[YRI][hapmap]
rs10059456	0.85[ASN][1000 genomes]
rs10069587	0.85[ASN][1000 genomes]
rs10069762	0.83[EUR][1000 genomes]
rs10069907	0.83[EUR][1000 genomes]
rs10074955	0.81[ASN][1000 genomes]
rs10076414	0.81[CHB][hapmap];0.91[YRI][hapmap]
rs10078012	0.82[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap]
rs1116750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs11242551	1.00[CHB][hapmap]
rs13358195	0.81[EUR][1000 genomes]
rs1393089	0.82[CHB][hapmap];0.82[CHD][hapmap];0.87[LWK][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs1393090	0.81[ASN][1000 genomes]
rs1393091	0.85[ASN][1000 genomes]
rs1423205	0.83[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs1423207	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs1423208	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes]
rs181824	0.82[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1827342	0.81[ASN][1000 genomes]
rs193879	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2431965	0.81[ASN][1000 genomes]
rs2431976	0.81[ASN][1000 genomes]
rs2436061	0.81[ASN][1000 genomes]
rs2436062	0.81[ASN][1000 genomes]
rs2436349	0.81[ASN][1000 genomes]
rs2436366	0.81[ASN][1000 genomes]
rs2436368	0.81[ASN][1000 genomes]
rs2436371	0.81[ASN][1000 genomes]
rs2455172	0.87[ASN][1000 genomes]
rs2455183	0.85[ASN][1000 genomes]
rs249559	0.87[ASN][1000 genomes]
rs249561	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs249562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs249563	0.83[EUR][1000 genomes]
rs3958113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs4364361	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4580751	0.91[CHB][hapmap]
rs4703338	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs547379	0.81[ASN][1000 genomes]
rs560491	0.81[ASN][1000 genomes]
rs560521	0.81[ASN][1000 genomes]
rs6596609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs669146	0.81[ASN][1000 genomes]
rs669564	0.81[ASN][1000 genomes]
rs677914	0.81[ASN][1000 genomes]
rs73776400	0.85[ASN][1000 genomes]
rs7446450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7728401	0.85[ASN][1000 genomes]
rs7732879	0.85[ASN][1000 genomes]
rs7733023	0.85[ASN][1000 genomes]
rs9327935	0.85[ASN][1000 genomes]
rs9327942	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882545	chr5:104139803-104841922	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027994	chr5:104239357-104731740	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1029755	chr5:104249927-104707358	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv537844	chr5:104249927-104707358	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882561	chr5:104288558-104767470	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv882565	chr5:104355383-104923878	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2752962	chr5:104424730-104765585	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv432794	chr5:104424968-105055467	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv882567	chr5:104435148-104831188	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1018980	chr5:104458335-105018747	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv882580	chr5:104458953-104738026	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv599268	chr5:104458953-105031008	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv882593	chr5:104470386-104747267	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv882594	chr5:104470386-104751044	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv882595	chr5:104470386-104980355	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv882596	chr5:104470386-105095250	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv882597	chr5:104470386-105174036	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv534023	chr5:104473254-105029646	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv432795	chr5:104478101-104699261	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1032051	chr5:104489459-104996814	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv830435	chr5:104528663-104698915	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv882611	chr5:104534148-104742710	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv882612	chr5:104552304-104864551	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv1030414	chr5:104583231-105392990	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv537847	chr5:104583231-105392990	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv882613	chr5:104604047-104732641	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv882614	chr5:104626717-104747267	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv882615	chr5:104626717-104767470	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv599281	chr5:104639792-104688954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv2758010	chr5:104657789-104825718	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	esv2759366	chr5:104657789-104825718	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv969241	chr5:104668248-104730648	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv882616	chr5:104674096-104800356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv882617	chr5:104674096-104980355	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv882618	chr5:104674096-104995466	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv1015243	chr5:104681125-104731740	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104686400-104689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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