Variant report

Variant	rs1512513
Chromosome Location	chr3:110300311-110300312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1020891	1.00[EUR][1000 genomes]
rs1037960	1.00[EUR][1000 genomes]
rs1040004	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10934039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1160101	1.00[EUR][1000 genomes]
rs12330541	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1350928	1.00[EUR][1000 genomes]
rs1398343	1.00[EUR][1000 genomes]
rs1398350	1.00[EUR][1000 genomes]
rs1398351	0.91[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]
rs1512517	0.91[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]
rs1512668	1.00[EUR][1000 genomes]
rs1512670	1.00[EUR][1000 genomes]
rs1512671	1.00[EUR][1000 genomes]
rs1512673	1.00[EUR][1000 genomes]
rs1512674	1.00[EUR][1000 genomes]
rs1512683	1.00[EUR][1000 genomes]
rs1512685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533210	1.00[EUR][1000 genomes]
rs1546533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1599575	1.00[EUR][1000 genomes]
rs1599577	1.00[EUR][1000 genomes]
rs1606372	1.00[EUR][1000 genomes]
rs1841734	1.00[EUR][1000 genomes]
rs1849369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1858444	1.00[EUR][1000 genomes]
rs1913098	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1949180	1.00[EUR][1000 genomes]
rs1949181	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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2137417	1.00[EUR][1000 genomes]
rs2249840	1.00[EUR][1000 genomes]
rs2669092	1.00[EUR][1000 genomes]
rs2669093	1.00[EUR][1000 genomes]
rs2669095	1.00[EUR][1000 genomes]
rs2669096	1.00[EUR][1000 genomes]
rs2669097	1.00[EUR][1000 genomes]
rs2669098	1.00[EUR][1000 genomes]
rs2712972	1.00[EUR][1000 genomes]
rs2712973	1.00[EUR][1000 genomes]
rs2712974	1.00[EUR][1000 genomes]
rs2712975	1.00[EUR][1000 genomes]
rs2712976	1.00[EUR][1000 genomes]
rs2712979	1.00[EUR][1000 genomes]
rs2712981	1.00[EUR][1000 genomes]
rs3957568	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	0.95[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	0.91[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781418	1.00[EUR][1000 genomes]
rs6781884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6783722	1.00[EUR][1000 genomes]
rs6784660	1.00[EUR][1000 genomes]
rs6794368	1.00[EUR][1000 genomes]
rs6798353	1.00[EUR][1000 genomes]
rs72941202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943114	1.00[EUR][1000 genomes]
rs72943119	1.00[EUR][1000 genomes]
rs72944942	1.00[EUR][1000 genomes]
rs72944943	1.00[EUR][1000 genomes]
rs72944949	1.00[EUR][1000 genomes]
rs72944956	1.00[EUR][1000 genomes]
rs72944965	1.00[EUR][1000 genomes]
rs7612471	1.00[EUR][1000 genomes]
rs7615275	1.00[EUR][1000 genomes]
rs7615412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7618482	1.00[EUR][1000 genomes]
rs7639735	1.00[EUR][1000 genomes]
rs7641366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642037	1.00[EUR][1000 genomes]
rs7644614	1.00[EUR][1000 genomes]
rs7652698	0.91[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]
rs9809749	1.00[EUR][1000 genomes]
rs9818867	1.00[EUR][1000 genomes]
rs9819275	1.00[EUR][1000 genomes]
rs9824638	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]
rs9868966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9874159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999414	chr3:110103126-110340180	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv829670	chr3:110134650-110308256	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv829672	chr3:110206693-110361632	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv460820	chr3:110283716-110321035	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv591274	chr3:110283716-110321035	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	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
16	nsv1007612	chr3:110296571-110310664	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1007973	chr3:110296571-110313934	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110293400-110301600	Weak transcription	Dnd41	blood
2	chr3:110296800-110301600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:110297000-110302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:110297400-110301800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:110297400-110302200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:110298800-110308400	Weak transcription	K562	blood
7	chr3:110299000-110300600	Enhancers	NHDF-Ad	bronchial
8	chr3:110299000-110301800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:110299000-110302000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:110299000-110302200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:110299200-110301800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:110299400-110300400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:110299400-110300400	Weak transcription	A549	lung
14	chr3:110299400-110301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:110299400-110301800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:110299400-110302000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:110299400-110302200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:110299400-110302200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:110299400-110302200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:110299400-110302200	Weak transcription	HSMM	muscle
21	chr3:110299400-110302600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:110299400-110308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:110299600-110302200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:110299600-110302200	Weak transcription	NH-A	brain
25	chr3:110299800-110301800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:110299800-110302200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:110299800-110307600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:110300200-110300400	Enhancers	Osteobl	bone

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