Variant report

Variant	rs12526462
Chromosome Location	chr6:45292114-45292115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:45291371-45292291	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45285385..45288934-chr6:45291924..45295475,3	K562	blood:
2	chr6:45290102..45292496-chr6:45343857..45345735,2	K562	blood:

Variant related genes	Relation type
RUNX2	TF binding region
SUPT3H	TF binding region
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10456552	0.86[ASN][1000 genomes]
rs10948225	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10948227	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10948228	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10948229	0.86[ASN][1000 genomes]
rs10948230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948231	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12194311	0.84[ASN][1000 genomes]
rs12199720	0.86[ASN][1000 genomes]
rs12205312	0.81[ASN][1000 genomes]
rs12208924	0.86[ASN][1000 genomes]
rs12524270	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12524323	0.86[ASN][1000 genomes]
rs12525603	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12525950	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12526484	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12526807	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12527586	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12527743	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12529295	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12529907	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12530207	0.81[ASN][1000 genomes]
rs12660412	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12662272	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12662664	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12662685	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12663469	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1284955	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1284962	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1284964	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1284966	0.80[ASN][1000 genomes]
rs1284967	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1284995	0.81[ASN][1000 genomes]
rs1284999	0.81[ASN][1000 genomes]
rs1285003	0.81[ASN][1000 genomes]
rs1285005	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285006	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285007	0.82[ASN][1000 genomes]
rs1285008	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285009	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285010	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285011	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285020	0.82[ASN][1000 genomes]
rs1285021	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285025	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1285027	0.82[ASN][1000 genomes]
rs1285028	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285029	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285030	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1285031	0.81[ASN][1000 genomes]
rs1285033	0.83[AMR][1000 genomes]
rs1324530	0.83[AMR][1000 genomes]
rs1324535	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1406848	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16873257	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16873345	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16873348	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873364	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16873366	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16873373	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873379	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288278	0.86[ASN][1000 genomes]
rs1748233	0.88[AMR][1000 genomes]
rs1748236	0.88[AMR][1000 genomes]
rs1748238	0.83[AMR][1000 genomes]
rs1748240	0.87[AMR][1000 genomes]
rs1852985	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1852986	0.85[ASN][1000 genomes]
rs1853652	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2024786	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024787	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2057552	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2057553	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2295295	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295296	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2396426	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2396504	0.86[ASN][1000 genomes]
rs2763134	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815263	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28360524	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34167737	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34677014	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35565233	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3763190	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3923353	0.84[ASN][1000 genomes]
rs4072928	0.86[ASN][1000 genomes]
rs4236086	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4312985	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4339452	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4341001	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4373351	0.84[ASN][1000 genomes]
rs4401652	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4441951	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4446571	0.84[ASN][1000 genomes]
rs4521586	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4521587	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4590263	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711813	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711814	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4714842	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4714846	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4714850	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4714853	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55959525	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56175185	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56243649	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58100797	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59983488	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60346641	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60826731	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458432	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6458433	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6458434	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6458435	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6458440	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458441	0.85[ASN][1000 genomes]
rs6901161	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6905959	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6917352	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6917594	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6926638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928753	0.86[ASN][1000 genomes]
rs6932804	0.86[ASN][1000 genomes]
rs6932926	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6933449	0.86[ASN][1000 genomes]
rs6934594	0.86[ASN][1000 genomes]
rs6935398	0.86[ASN][1000 genomes]
rs6936475	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6938177	0.86[ASN][1000 genomes]
rs6940983	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs717987	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73449282	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73735337	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73735338	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73735354	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73735357	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73735369	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73735375	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73735378	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7740083	0.86[ASN][1000 genomes]
rs7740542	0.83[AMR][1000 genomes]
rs7757282	0.82[ASN][1000 genomes]
rs7760112	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7769231	0.86[ASN][1000 genomes]
rs912548	0.83[AFR][1000 genomes]
rs9296452	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9296457	0.83[ASN][1000 genomes]
rs9296458	0.86[ASN][1000 genomes]
rs9357484	0.86[ASN][1000 genomes]
rs9369549	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9369558	0.86[ASN][1000 genomes]
rs9381383	0.86[ASN][1000 genomes]
rs9395081	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9395095	0.86[ASN][1000 genomes]
rs9463083	0.86[ASN][1000 genomes]
rs9472442	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9472453	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs967588	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45285600-45295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:45289800-45294600	Weak transcription	Brain Anterior Caudate	brain
3	chr6:45290200-45292200	Active TSS	Osteobl	bone
4	chr6:45290200-45292600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:45290400-45292600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr6:45290400-45292600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:45290600-45292400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:45290800-45292600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:45290800-45293800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:45290800-45295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:45291000-45292600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:45291400-45292400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:45291400-45292800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:45291600-45293000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr6:45291600-45294400	Weak transcription	Fetal Heart	heart
16	chr6:45291800-45292200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:45291800-45293000	Enhancers	Dnd41	blood
18	chr6:45291800-45293200	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:45291800-45294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:45291800-45295600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:45291800-45295600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:45292000-45292400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:45292000-45292400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:45292000-45292400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:45292000-45292800	Enhancers	Primary T cells from cord blood	blood
26	chr6:45292000-45292800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:45292000-45295600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:45292000-45295800	Weak transcription	Monocytes-CD14+_RO01746	blood

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