Variant report

Variant	rs2324214
Chromosome Location	chr13:64009188-64009189
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10047770	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12323111	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12716705	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12855080	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1340494	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1384927	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1384928	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564753	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1564754	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1872149	0.85[ASN][1000 genomes]
rs2170798	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2170799	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35145766	0.84[ASN][1000 genomes]
rs36114313	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4357820	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4468486	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs537293	0.90[ASN][1000 genomes]
rs548830	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61953623	0.82[ASN][1000 genomes]
rs7326081	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7334962	0.81[EUR][1000 genomes]
rs779551	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7986221	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7989255	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7995602	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7999135	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7999216	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9317311	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9317312	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9317318	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9317319	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9317320	0.82[ASN][1000 genomes]
rs9317322	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9528618	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9528619	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9528630	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9539732	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9539735	0.81[EUR][1000 genomes]
rs9539736	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9539743	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9539744	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9539745	0.81[ASN][1000 genomes]
rs9539746	0.85[ASN][1000 genomes]
rs9539747	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9539754	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9539756	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9539757	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9539758	0.82[ASN][1000 genomes]
rs9592268	0.81[EUR][1000 genomes]
rs9592271	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9592275	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9598577	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9598579	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9598580	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9598583	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9598586	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9598587	0.82[ASN][1000 genomes]
rs9598588	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9646051	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045647	chr13:63545468-64082080	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
2	nsv541799	chr13:63545468-64082080	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1039661	chr13:63736333-64287558	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541801	chr13:63736333-64287558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv900278	chr13:63824231-64020810	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv900279	chr13:63831007-64100634	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv900284	chr13:63841148-64020810	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv900285	chr13:63841148-64122619	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv900286	chr13:63851090-64050360	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1038480	chr13:63872027-64013864	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv900287	chr13:63875325-64020810	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv900288	chr13:63942220-64020810	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv900289	chr13:63942220-64050360	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv900290	chr13:63942220-64184453	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1042265	chr13:63945130-64471230	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1046067	chr13:63958458-64118191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv541802	chr13:63958458-64118191	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv900294	chr13:63962844-64020810	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv900295	chr13:63962844-64050360	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv900296	chr13:63962844-64050360	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv900297	chr13:63962844-64088820	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv900298	chr13:63962844-64156606	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv900300	chr13:63969262-64020810	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv900301	chr13:63976723-64020810	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv900302	chr13:63976723-64050360	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv900303	chr13:63976723-64088820	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv900304	chr13:63976723-64133015	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv900305	chr13:63976723-64149339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv900306	chr13:63976723-64156606	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv900307	chr13:63976723-64160753	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv900308	chr13:63976723-64184453	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv900309	chr13:63994086-64050360	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv900310	chr13:63996205-64050360	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv917273	chr13:63998155-64344377	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64002600-64010200	Weak transcription	NHDF-Ad	bronchial
2	chr13:64007200-64009600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:64007400-64010800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:64008000-64009400	Weak transcription	NH-A	brain
5	chr13:64008000-64010200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:64008400-64009600	Weak transcription	Hela-S3	cervix
7	chr13:64008400-64010400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:64008600-64009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:64008600-64009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:64008600-64010000	Enhancers	Osteobl	bone
11	chr13:64008600-64010200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:64008800-64009200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:64008800-64009200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:64008800-64009200	Weak transcription	HMEC	breast
15	chr13:64008800-64009800	Weak transcription	HUVEC	blood vessel

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