Variant report

Variant	rs2591904
Chromosome Location	chr5:52459150-52459151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1445989	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1445990	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1808399	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs254473	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs254487	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs254488	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs30637	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs30714	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs964937	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs964938	0.93[AMR][1000 genomes];0.84[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv2444178	chr5:52458447-52460065	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
4	esv3469229	chr5:52458604-52460010	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
5	esv1932351	chr5:52458822-52459868	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
6	esv3469233	chr5:52458845-52459778	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
7	esv3515573	chr5:52458848-52459778	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
8	esv17764	chr5:52458851-52459701	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
9	nsv820944	chr5:52458851-52459795	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
10	esv3515575	chr5:52458860-52459749	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
11	esv3515571	chr5:52458867-52459723	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
12	nsv598171	chr5:52458873-52459375	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
13	esv3469232	chr5:52458875-52459741	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
14	esv3469231	chr5:52458876-52459742	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
15	esv3469228	chr5:52458888-52459699	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
16	esv3515576	chr5:52458895-52459722	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
17	esv3515570	chr5:52458896-52459756	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
18	nsv598172	chr5:52458927-52459633	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
19	nsv823069	chr5:52458937-52459507	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
20	nsv823070	chr5:52458937-52459651	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
21	nsv823071	chr5:52458937-52459765	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
22	nsv823072	chr5:52458937-52459795	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
23	esv3469234	chr5:52458938-52459677	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
24	esv3515572	chr5:52458948-52459678	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
25	nsv328376	chr5:52458953-52459671	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
26	esv3469235	chr5:52458953-52459673	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
27	esv3515577	chr5:52458953-52459673	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52458200-52460200	Weak transcription	NHDF-Ad	bronchial
2	chr5:52458200-52461800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:52458200-52463600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:52458200-52463600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:52458200-52463600	Weak transcription	Osteobl	bone
6	chr5:52458400-52460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:52458400-52461400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:52458600-52460000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:52458800-52461800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:52459000-52460400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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