Variant report

Variant	rs12071770
Chromosome Location	chr1:186481619-186481620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs10489392	0.99[EUR][1000 genomes]
rs10489393	0.99[EUR][1000 genomes]
rs10798041	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10798042	0.98[EUR][1000 genomes]
rs10798044	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10798045	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10798046	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798047	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10798048	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10798049	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911860	0.84[EUR][1000 genomes]
rs10911861	0.96[EUR][1000 genomes]
rs10911863	0.98[EUR][1000 genomes]
rs10911864	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911866	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10911867	0.95[EUR][1000 genomes]
rs10911868	0.98[EUR][1000 genomes]
rs10911869	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10911870	0.96[EUR][1000 genomes]
rs10911871	0.99[EUR][1000 genomes]
rs10911872	0.99[EUR][1000 genomes]
rs10911873	0.99[EUR][1000 genomes]
rs10911874	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10911879	0.99[EUR][1000 genomes]
rs10911880	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911882	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10911883	0.96[EUR][1000 genomes]
rs10911884	0.94[EUR][1000 genomes]
rs10911885	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10911886	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10911887	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10911889	0.91[EUR][1000 genomes]
rs11484607	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11487358	0.99[EUR][1000 genomes]
rs11576701	0.88[EUR][1000 genomes]
rs11578436	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11578514	1.00[EUR][1000 genomes]
rs11578546	0.99[EUR][1000 genomes]
rs11585033	0.91[EUR][1000 genomes]
rs11585801	0.88[EUR][1000 genomes]
rs11589235	0.95[EUR][1000 genomes]
rs11589637	0.95[EUR][1000 genomes]
rs11590457	0.98[EUR][1000 genomes]
rs12057695	0.95[EUR][1000 genomes]
rs12061722	0.91[EUR][1000 genomes]
rs12062166	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12062679	0.95[EUR][1000 genomes]
rs12062743	1.00[EUR][1000 genomes]
rs12072014	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12076100	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12077211	0.93[EUR][1000 genomes]
rs12078657	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12080265	0.99[EUR][1000 genomes]
rs12081060	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085604	0.99[EUR][1000 genomes]
rs12085848	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12085968	0.99[EUR][1000 genomes]
rs12089016	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12089127	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12089415	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12092372	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12094398	0.96[EUR][1000 genomes]
rs12096518	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12097208	0.99[EUR][1000 genomes]
rs12401657	0.96[EUR][1000 genomes]
rs12402484	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12402766	0.91[EUR][1000 genomes]
rs12402797	0.91[EUR][1000 genomes]
rs12403321	0.93[EUR][1000 genomes]
rs12404135	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12404145	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12406189	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12406209	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12407957	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12408222	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12408912	0.98[EUR][1000 genomes]
rs12409263	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12410237	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12410549	0.91[EUR][1000 genomes]
rs1319120	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1569879	0.91[EUR][1000 genomes]
rs16825452	0.99[EUR][1000 genomes]
rs16825469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17520924	0.88[EUR][1000 genomes]
rs1799957	0.81[AFR][1000 genomes]
rs1882926	0.94[EUR][1000 genomes]
rs1929092	0.81[AFR][1000 genomes]
rs1929095	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1997977	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2038225	0.91[EUR][1000 genomes]
rs2207728	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2383385	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383386	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2383504	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383505	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2383511	0.91[EUR][1000 genomes]
rs2891247	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34869216	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34898353	0.89[EUR][1000 genomes]
rs34975495	0.93[EUR][1000 genomes]
rs35066734	0.95[EUR][1000 genomes]
rs35643079	0.83[AFR][1000 genomes]
rs35999012	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36105782	0.81[AFR][1000 genomes]
rs3844242	0.84[AFR][1000 genomes]
rs3851884	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3851886	1.00[EUR][1000 genomes]
rs3863719	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3901950	0.84[AFR][1000 genomes]
rs3934200	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4567244	0.81[AFR][1000 genomes]
rs55812689	0.96[EUR][1000 genomes]
rs56767915	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57390268	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57468285	0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58982724	0.96[EUR][1000 genomes]
rs59516785	0.99[EUR][1000 genomes]
rs59665821	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60682317	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60982539	0.93[EUR][1000 genomes]
rs61101909	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6425031	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425032	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6425033	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6669319	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6671561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6672638	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6677885	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6677914	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6679923	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6680252	0.83[AFR][1000 genomes]
rs66850891	0.93[EUR][1000 genomes]
rs6687784	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6689727	0.83[AFR][1000 genomes]
rs6690318	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6692629	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6698923	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67143595	0.96[EUR][1000 genomes]
rs67203540	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67362011	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67396678	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67488110	1.00[EUR][1000 genomes]
rs67588474	0.99[EUR][1000 genomes]
rs67607835	0.93[EUR][1000 genomes]
rs67744944	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67777998	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs68164021	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719487	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72719500	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72719501	1.00[AFR][1000 genomes];1.00[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]
rs73048477	0.99[EUR][1000 genomes]
rs73052465	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7512750	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7521968	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7522862	0.91[EUR][1000 genomes]
rs7523747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7525586	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7526069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536199	0.81[AFR][1000 genomes]
rs7538407	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7542810	0.96[EUR][1000 genomes]
rs7544457	1.00[EUR][1000 genomes]
rs7545438	0.96[EUR][1000 genomes]
rs7548600	0.91[EUR][1000 genomes]
rs7550585	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7550953	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7555973	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7556360	0.81[AFR][1000 genomes]
rs765799	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9659276	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9804178	0.80[AFR][1000 genomes];0.94[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186470200-186493200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:186475200-186491600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:186479000-186492600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:186480400-186482200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:186480400-186482600	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:186480600-186482400	Enhancers	Primary B cells from cord blood	blood
7	chr1:186480800-186481800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:186480800-186481800	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:186480800-186481800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:186480800-186482000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr1:186480800-186482200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:186480800-186482200	Enhancers	GM12878-XiMat	blood
13	chr1:186480800-186482400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:186480800-186483000	Enhancers	Stomach Mucosa	stomach
15	chr1:186480800-186483800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:186481000-186481800	Enhancers	Lung	lung
17	chr1:186481000-186481800	Flanking Active TSS	A549	lung
18	chr1:186481000-186481800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:186481000-186482000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:186481400-186482200	Enhancers	Esophagus	oesophagus
21	chr1:186481400-186484400	Weak transcription	Spleen	Spleen
22	chr1:186481600-186482000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:186481600-186482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:186481600-186483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:186481600-186484200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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