Variant report

Variant	rs72943111
Chromosome Location	chr3:110373736-110373737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1020891	1.00[EUR][1000 genomes]
rs1037960	1.00[EUR][1000 genomes]
rs1040004	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1160101	1.00[EUR][1000 genomes]
rs12330541	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1350928	1.00[EUR][1000 genomes]
rs1350931	1.00[EUR][1000 genomes]
rs1398343	1.00[EUR][1000 genomes]
rs1398350	1.00[EUR][1000 genomes]
rs1398351	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1398416	1.00[EUR][1000 genomes]
rs1462297	1.00[EUR][1000 genomes]
rs1462312	1.00[EUR][1000 genomes]
rs1512513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1512517	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1512518	1.00[EUR][1000 genomes]
rs1512664	1.00[EUR][1000 genomes]
rs1512683	1.00[EUR][1000 genomes]
rs1533193	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533210	1.00[EUR][1000 genomes]
rs1546533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1599575	1.00[EUR][1000 genomes]
rs1599577	1.00[EUR][1000 genomes]
rs1841734	1.00[EUR][1000 genomes]
rs1849369	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1903758	1.00[EUR][1000 genomes]
rs1913098	1.00[EUR][1000 genomes]
rs1949180	1.00[EUR][1000 genomes]
rs1949181	1.00[EUR][1000 genomes]
rs1975901	1.00[EUR][1000 genomes]
rs1993781	1.00[EUR][1000 genomes]
rs2036968	1.00[EUR][1000 genomes]
rs2054376	1.00[EUR][1000 genomes]
rs2137381	1.00[EUR][1000 genomes]
rs2137383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3957571	1.00[EUR][1000 genomes]
rs3957572	1.00[EUR][1000 genomes]
rs4333116	1.00[EUR][1000 genomes]
rs4549301	1.00[EUR][1000 genomes]
rs4682012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682021	1.00[EUR][1000 genomes]
rs4682177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682593	1.00[EUR][1000 genomes]
rs58412853	1.00[EUR][1000 genomes]
rs6437919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437921	1.00[EUR][1000 genomes]
rs6766908	1.00[EUR][1000 genomes]
rs6780526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781418	1.00[EUR][1000 genomes]
rs6781884	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6783722	1.00[EUR][1000 genomes]
rs6794368	1.00[EUR][1000 genomes]
rs6798353	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941202	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943104	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943114	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72943119	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944942	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944943	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944949	1.00[EUR][1000 genomes]
rs72944956	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72944965	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7612471	1.00[EUR][1000 genomes]
rs7615275	1.00[EUR][1000 genomes]
rs7618482	1.00[EUR][1000 genomes]
rs7619978	1.00[EUR][1000 genomes]
rs7639735	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7641366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642037	1.00[EUR][1000 genomes]
rs7644614	1.00[EUR][1000 genomes]
rs7652698	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9288915	1.00[EUR][1000 genomes]
rs963345	1.00[EUR][1000 genomes]
rs964444	1.00[EUR][1000 genomes]
rs970165	1.00[EUR][1000 genomes]
rs9818867	1.00[EUR][1000 genomes]
rs9819275	1.00[EUR][1000 genomes]
rs9823218	1.00[EUR][1000 genomes]
rs9824638	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9829084	1.00[EUR][1000 genomes]
rs9839505	1.00[EUR][1000 genomes]
rs9857432	1.00[EUR][1000 genomes]
rs9860353	1.00[EUR][1000 genomes]
rs9868966	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9874159	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs988374	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520365	chr3:110155172-110441165	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001144	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv536687	chr3:110158316-110431113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1001810	chr3:110158316-110522247	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010230	chr3:110204439-110588814	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv536688	chr3:110204439-110588814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1011034	chr3:110209344-110559021	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv536689	chr3:110209344-110559021	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1014199	chr3:110293896-110754155	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110370200-110375400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:110372200-110373800	Enhancers	Fetal Intestine Small	intestine
3	chr3:110372200-110374000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:110372800-110373800	Active TSS	Duodenum Mucosa	Duodenum
5	chr3:110373200-110373800	Flanking Active TSS	Liver	Liver
6	chr3:110373200-110375200	Enhancers	Fetal Kidney	kidney
7	chr3:110373400-110374200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr3:110373400-110374400	Weak transcription	Fetal Intestine Large	intestine
9	chr3:110373400-110374800	Enhancers	HepG2	liver
10	chr3:110373600-110373800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr3:110373600-110373800	Enhancers	Stomach Mucosa	stomach

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