Variant report

Variant	rs4671948
Chromosome Location	chr2:53004560-53004561
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1011229	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10496009	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12470339	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12471375	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1377958	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1451465	0.87[ASN][1000 genomes]
rs1454403	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1549748	0.85[EUR][1000 genomes]
rs17043593	0.85[EUR][1000 genomes]
rs17043603	0.86[AMR][1000 genomes]
rs17043607	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17043766	0.85[EUR][1000 genomes]
rs17043814	0.85[EUR][1000 genomes]
rs17043816	0.85[EUR][1000 genomes]
rs1868904	0.85[EUR][1000 genomes]
rs2599284	0.87[ASN][1000 genomes]
rs2599286	0.87[ASN][1000 genomes]
rs2603391	0.87[ASN][1000 genomes]
rs2603393	0.85[ASN][1000 genomes]
rs2839750	0.85[EUR][1000 genomes]
rs3770388	0.85[EUR][1000 genomes]
rs4672031	0.80[AMR][1000 genomes]
rs56066502	0.85[EUR][1000 genomes]
rs56122338	0.85[EUR][1000 genomes]
rs56361754	0.85[EUR][1000 genomes]
rs57955203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58123872	0.85[EUR][1000 genomes]
rs59711835	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60553623	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73933669	0.85[EUR][1000 genomes]
rs7575309	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7577236	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7602150	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs965442	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834047	chr2:52874257-53056239	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv874132	chr2:52909087-53027798	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv874133	chr2:52910065-53023825	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874134	chr2:52910065-53027798	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv874135	chr2:52937317-53061834	Enhancers ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv431058	chr2:52944395-53057924	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv997562	chr2:52949987-53007471	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv2760626	chr2:52949987-53033546	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv527135	chr2:52957024-53019822	Enhancers Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
12	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1005813	chr2:52959769-53114865	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1013992	chr2:52992719-53033534	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
17	nsv1011068	chr2:53000023-53033534	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv1005759	chr2:53000765-53033534	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
19	nsv524510	chr2:53002225-53030336	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
20	nsv457807	chr2:53003740-53027798	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
21	nsv581975	chr2:53003740-53027798	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv1001343	chr2:53004246-53033534	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53004200-53006400	Enhancers	Fetal Intestine Large	intestine

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