Variant report

Variant	rs72719487
Chromosome Location	chr1:186468580-186468581
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186462234..186463900-chr1:186466419..186468938,2	MCF-7	breast:

Extended variants
information (count: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10489392	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10489393	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798041	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798042	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798044	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798045	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798046	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798047	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10798048	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10798049	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911860	0.84[EUR][1000 genomes]
rs10911861	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911863	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911864	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911866	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911867	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10911868	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911869	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911870	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911871	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911872	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911873	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911874	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10911879	0.99[EUR][1000 genomes]
rs10911880	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911882	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911883	0.96[EUR][1000 genomes]
rs10911884	0.94[EUR][1000 genomes]
rs10911885	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911886	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10911887	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10911889	0.91[EUR][1000 genomes]
rs11484607	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11487358	0.99[EUR][1000 genomes]
rs11576701	0.88[EUR][1000 genomes]
rs11578436	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11578514	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11578546	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11585033	0.91[EUR][1000 genomes]
rs11585801	0.88[EUR][1000 genomes]
rs11589235	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11589637	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11590457	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12057695	0.95[EUR][1000 genomes]
rs12061722	0.91[EUR][1000 genomes]
rs12062166	0.99[EUR][1000 genomes]
rs12062679	0.95[EUR][1000 genomes]
rs12062743	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12071770	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12072014	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12076100	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12077211	0.93[EUR][1000 genomes]
rs12078657	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12080265	0.99[EUR][1000 genomes]
rs12081060	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085604	0.99[EUR][1000 genomes]
rs12085848	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12085968	0.99[EUR][1000 genomes]
rs12089016	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12089127	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12089415	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092372	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12094398	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12096518	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12097208	0.99[EUR][1000 genomes]
rs12401657	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12402484	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12402521	0.87[AFR][1000 genomes]
rs12402766	0.91[EUR][1000 genomes]
rs12402797	0.91[EUR][1000 genomes]
rs12403321	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12404135	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12404145	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12406189	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12406209	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12407957	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12408222	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12408912	0.98[EUR][1000 genomes]
rs12409263	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410237	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410549	0.91[EUR][1000 genomes]
rs1319120	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1569879	0.91[EUR][1000 genomes]
rs16825452	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16825469	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17520924	0.88[EUR][1000 genomes]
rs1799957	0.90[AFR][1000 genomes]
rs1882926	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1929092	0.87[AFR][1000 genomes]
rs1929095	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1997977	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2038225	0.91[EUR][1000 genomes]
rs2207728	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2383385	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383386	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2383504	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383505	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2383511	0.91[EUR][1000 genomes]
rs2891247	0.96[EUR][1000 genomes]
rs34869216	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34898353	0.89[EUR][1000 genomes]
rs34975495	0.93[EUR][1000 genomes]
rs35066734	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35643079	0.91[AFR][1000 genomes]
rs35999012	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36105782	0.89[AFR][1000 genomes]
rs3844242	0.92[AFR][1000 genomes]
rs3851884	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851886	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3863719	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3901950	0.92[AFR][1000 genomes]
rs3934200	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4567244	0.87[AFR][1000 genomes]
rs55812689	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56767915	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57390268	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57468285	0.99[EUR][1000 genomes]
rs58982724	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59516785	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59665821	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60682317	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60982539	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61101909	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6425031	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6425032	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6425033	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6659683	0.87[AFR][1000 genomes]
rs6669319	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6671561	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6672638	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672836	0.87[AFR][1000 genomes]
rs6675505	0.84[AFR][1000 genomes]
rs6677885	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6677914	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6679923	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6680252	0.91[AFR][1000 genomes]
rs66850891	0.93[EUR][1000 genomes]
rs6687784	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6689727	0.91[AFR][1000 genomes]
rs6690318	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6692629	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6698923	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67143595	0.96[EUR][1000 genomes]
rs67203540	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67362011	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67396678	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67488110	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67588474	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67607835	0.93[EUR][1000 genomes]
rs67744944	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67777998	0.99[EUR][1000 genomes]
rs68164021	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72719500	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72719501	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721517	0.96[EUR][1000 genomes]
rs72721521	0.93[EUR][1000 genomes]
rs72721544	0.90[EUR][1000 genomes]
rs73048464	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73048477	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73052465	0.99[EUR][1000 genomes]
rs7512750	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7521968	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7522862	0.91[EUR][1000 genomes]
rs7523747	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7526069	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7534971	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536199	0.87[AFR][1000 genomes]
rs7538407	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7542810	0.96[EUR][1000 genomes]
rs7544457	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7545438	0.96[EUR][1000 genomes]
rs7548600	0.91[EUR][1000 genomes]
rs7550585	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7550953	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7555973	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7556360	0.87[AFR][1000 genomes]
rs765799	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9659276	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9804178	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186459400-186471800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:186462600-186469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:186464200-186469600	Weak transcription	Aorta	Aorta
4	chr1:186465400-186468600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:186466400-186471000	Weak transcription	Brain Anterior Caudate	brain
6	chr1:186466600-186470600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:186467000-186471000	Weak transcription	GM12878-XiMat	blood
8	chr1:186467000-186471400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:186467200-186468800	Enhancers	NH-A	brain
10	chr1:186467200-186470200	Enhancers	HUVEC	blood vessel
11	chr1:186467200-186471200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:186467200-186474400	Enhancers	NHDF-Ad	bronchial
13	chr1:186467400-186469000	Enhancers	Stomach Mucosa	stomach
14	chr1:186467400-186469400	Enhancers	Osteobl	bone
15	chr1:186467400-186470600	Enhancers	NHEK	skin
16	chr1:186467600-186469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:186467600-186470200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:186467600-186470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:186467600-186470400	Enhancers	HMEC	breast
20	chr1:186467800-186469200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:186467800-186469200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:186468000-186468800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:186468000-186469200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:186468000-186469400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:186468200-186468600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:186468400-186468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:186468400-186468800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:186468400-186469200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:186468400-186469200	Flanking Active TSS	A549	lung
30	chr1:186468400-186470600	Enhancers	HUES64 Cell Line	embryonic stem cell

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